H00773 | |
H number | H00773 |
Name | Autosomal dominant intellectual developmental disorder; Autosomal dominant mental retardation |
Description | Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most causative genes identified so far are either located on the X chromosome or are associated with an autosomal recessive mode of inheritance. Recently, a lot of genes associated with autosomal dominant mental retardation have been identified. |
Category | Mental and behavioural disorder |
Network | nt06512 Chromosome cohesion and segregation nt06515(H00773) Regulation of kinetochore-microtubule interactions nt06523(H00773) Epigenetic regulation by Polycomb complexes nt06528(H00773) Calcium signaling nt06530(H00773) PI3K signaling |
Gene | (MRD1) MBD5 [HSA:55777] [KO:K23219] (MRD2) DOCK8 [HSA:81704] [KO:K21852] (MRD3) CDH15 [HSA:1013] [KO:K06809] (MRD4) KIRREL3 [HSA:84623] [KO:K25874] (MRD5) SYNGAP1 [HSA:8831] [KO:K17631] (MRD6) GRIN2B [HSA:2904] [KO:K05210] (MRD7) DYRK1A [HSA:1859] [KO:K08825] (MRD8) GRIN1 [HSA:2902] [KO:K05208] (MRD9) KIF1A [HSA:547] [KO:K10392] (MRD10) CACNG2 [HSA:10369] [KO:K04867] (MRD11) EPB41L1 [HSA:2036] [KO:K23961] (MRD12) ARID1B [HSA:57492] [KO:K11653] (MRD13) DYNC1H1 [HSA:1778] [KO:K10413] (MRD14) ARID1A [HSA:8289] [KO:K11653] (MRD15) SMARCB1 [HSA:6598] [KO:K11648] (MRD16) SMARCA4 [HSA:6597] [KO:K11647] (MRD17) PACS1 [HSA:55690] [KO:K23290] (MRD18) GATAD2B [HSA:57459] [KO:K23194] (MRD19) CTNNB1 [HSA:1499] [KO:K02105] (MRD20) MEF2C [HSA:4208] [KO:K04454] (MRD21) CTCF [HSA:10664] [KO:K23195] (MRD22) ZBTB18 [HSA:10472] [KO:K23196] (MRD23) SETD5 [HSA:55209] [KO:K23216] (MRD24) DEAF1 [HSA:10522] [KO:K23041] (MRD25) AHDC1 [HSA:27245] [KO:K22592] (MRD26) AUTS2 [HSA:26053] [KO:K23214] (MRD27) SOX11 [HSA:6664] [KO:K09268] (MRD29) SETBP1 [HSA:26040] [KO:K23217] (MRD30) ZMYND11 [HSA:10771] [KO:K23218] (MRD31) PURA [HSA:5813] [KO:K21772] (MRD32) KAT6A [HSA:7994] [KO:K11305] (MRD33) DPP6 [HSA:1804] [KO:K23013] (MRD34) COL4A3BP [HSA:10087] [KO:K08283] (MRD35) PPP2R5D [HSA:5528] [KO:K11584] (MRD36) PPP2R1A [HSA:5518] [KO:K03456] (MRD38) EEF1A2 [HSA:1917] [KO:K03231] (MRD39) MYT1L [HSA:23040] [KO:K23193] (MRD40) CHAMP1 [HSA:283489] [KO:K22593] (MRD41) TBL1XR1 [HSA:79718] [KO:K04508] (MRD42) GNB1 [HSA:2782] [KO:K04536] (MRD43) HIVEP2 [HSA:3097] [KO:K09239] (MRD44/63) TRIO [HSA:7204] [KO:K08810] (MRD45) CIC [HSA:23152] [KO:K20225] (MRD46) KCNQ5 [HSA:56479] [KO:K04930] (MRD47) STAG1 [HSA:10274] [KO:K06671] (MRD48) RAC1 [HSA:5879] [KO:K04392] (MRD49) TRIP12 [HSA:9320] [KO:K10590] (MRD50) NAA15 [HSA:80155] [KO:K20792] (MRD51) KMT5B [HSA:51111] [KO:K11429] (MRD52) ASH1L [HSA:55870] [KO:K06101] (MRD53) CAMK2A [HSA:815] [KO:K04515] (MRD54) CAMK2B [HSA:816] [KO:K04515] (MRD55) NUS1 [HSA:116150] [KO:K19177] (MRD56) CLTC [HSA:1213] [KO:K04646] (MRD57) TLK2 [HSA:11011] [KO:K08864] (MRD58) SET [HSA:6418] [KO:K11290] (MRD59) CAMK2G [HSA:818] [KO:K04515] (MRD60) AP2M1 [HSA:1173] [KO:K11826] (MRD61) MED13 [HSA:9969] [KO:K15164] (MRD62) DLG4 [HSA:1742] [KO:K11828] (MRD64) ZNF292 [HSA:23036] [KO:K26728] (MRD65) KDM4B [HSA:23030] [KO:K06709] (MRD66) ATP2B1 [HSA:490] [KO:K05850] (MRD67) GRIA1 [HSA:2890] [KO:K05197] (MRD68) KMT2B [HSA:9757] [KO:K14959] (MRD69) LMAN2L [HSA:81562] [KO:K10083] (MRD70) SETD2 [HSA:29072] [KO:K11423] (MRD71) RFX7 [HSA:64864] [KO:K09175] (MRD72) SRRM2 [HSA:23524] [KO:K13172] (MRD73) TAF4 [HSA:6874] [KO:K03129] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 6A00 ICD-10: F78.9 MeSH: C566947 C567241 C567240 C567234 OMIM: 156200 614113 612580 612581 612621 613970 614254 614255 614256 614257 614562 614563 614607 614608 614609 615009 615074 615075 613443 615502 612337 615761 615828 615829 615866 616078 616083 616158 616268 616311 616351 616355 616362 616393 616521 616579 616944 616973 616977 617061 617600 617601 617635 617751 617752 617787 617788 617796 617798 617799 617831 617854 618050 618106 618522 618587 618009 618793 618825 619188 619320 619910 619927 619934 617863 620157 620330 620439 620450 |
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JOURNAL J Med Genet 49:179-83 (2012) DOI:10.1136/jmedgenet-2011-100542 PMID:23159249 (MRD17) AUTHORS Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG TITLE Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. JOURNAL Am J Hum Genet 91:1122-7 (2012) DOI:10.1016/j.ajhg.2012.10.013 PMID:23644463 (MRD18) AUTHORS Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T TITLE GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. JOURNAL J Med Genet 50:507-14 (2013) DOI:10.1136/jmedgenet-2012-101490 PMID:23033978 (MRD19 MRD67) AUTHORS de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE TITLE Diagnostic exome sequencing in persons with severe intellectual disability. JOURNAL N Engl J Med 367:1921-9 (2012) DOI:10.1056/NEJMoa1206524 PMID:20513142 (MRD20) AUTHORS Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV, Ekici AB, Reis A, Rauch A TITLE Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. JOURNAL Hum Mutat 31:722-33 (2010) DOI:10.1002/humu.21253 PMID:23746550 (MRD21) AUTHORS Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C TITLE De novo mutations in the genome organizer CTCF cause intellectual disability. JOURNAL Am J Hum Genet 93:124-31 (2013) DOI:10.1016/j.ajhg.2013.05.007 PMID:21800092 (MRD22) AUTHORS Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG TITLE High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. JOURNAL Hum Genet 131:145-56 (2012) DOI:10.1007/s00439-011-1073-y PMID:24680889 (MRD23) AUTHORS Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA, Hurles M, Raymond FL TITLE De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. JOURNAL Am J Hum Genet 94:618-24 (2014) DOI:10.1016/j.ajhg.2014.03.006 PMID:21076407 (MRD24) AUTHORS Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA TITLE A de novo paradigm for mental retardation. JOURNAL Nat Genet 42:1109-12 (2010) DOI:10.1038/ng.712 PMID:24791903 (MRD25) AUTHORS Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA TITLE De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. JOURNAL Am J Hum Genet 94:784-9 (2014) DOI:10.1016/j.ajhg.2014.04.006 PMID:23332918 (MRD26) AUTHORS Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA TITLE Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. JOURNAL Am J Hum Genet 92:210-20 (2013) DOI:10.1016/j.ajhg.2012.12.011 PMID:24886874 (MRD27) AUTHORS Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N TITLE De novo SOX11 mutations cause Coffin-Siris syndrome. JOURNAL Nat Commun 5:4011 (2014) DOI:10.1038/ncomms5011 PMID:25217958 (MRD29 MRD30) AUTHORS Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gecz J, de Vries BB, Romano C, Eichler EE TITLE Refining analyses of copy number variation identifies specific genes associated with developmental delay. JOURNAL Nat Genet 46:1063-71 (2014) DOI:10.1038/ng.3092 PMID:25439098 (MRD31) AUTHORS Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F TITLE Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. JOURNAL Am J Hum Genet 95:579-83 (2014) DOI:10.1016/j.ajhg.2014.09.014 PMID:25728777 (MRD32) AUTHORS Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A TITLE Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. JOURNAL Am J Hum Genet 96:507-13 (2015) DOI:10.1016/j.ajhg.2015.01.016 PMID:23832105 (MRD33) AUTHORS Liao C, Fu F, Li R, Yang WQ, Liao HY, Yan JR, Li J, Li SY, Yang X, Li DZ TITLE Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. JOURNAL Eur J Med Genet 56:484-9 (2013) DOI:10.1016/j.ejmg.2013.06.008 PMID:25533962 (MRD34 MRD35 MRD36 MRD40) TITLE Large-scale discovery of novel genetic causes of developmental disorders. JOURNAL Nature 519:223-8 (2015) DOI:10.1038/nature14135 PMID:24697219 (MRD38) AUTHORS Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusaki Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N TITLE De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. JOURNAL Clin Genet 87:356-61 (2015) DOI:10.1111/cge.12394 PMID:25232846 (MRD39) AUTHORS De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Bena F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tumer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B TITLE Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. JOURNAL Genet Med 17:460-6 (2015) DOI:10.1038/gim.2014.124 PMID:25102098 (MRD41) AUTHORS Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N TITLE A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. JOURNAL J Hum Genet 59:581-3 (2014) DOI:10.1038/jhg.2014.71 PMID:27108799 (MRD42) AUTHORS Petrovski S, Kury S, Myers CT, Anyane-Yeboa K, Cogne B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen AB, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bezieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB TITLE Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. JOURNAL Am J Hum Genet 98:1001-10 (2016) DOI:10.1016/j.ajhg.2016.03.011 PMID:23020937 (MRD43) AUTHORS Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM TITLE Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. JOURNAL Lancet 380:1674-82 (2012) DOI:10.1016/S0140-6736(12)61480-9 PMID:26721934 (MRD44) AUTHORS Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BB TITLE TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. JOURNAL Hum Mol Genet 25:892-902 (2016) DOI:10.1093/hmg/ddv618 PMID:28288114 (MRD45) AUTHORS Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY TITLE Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. JOURNAL Nat Genet 49:527-536 (2017) DOI:10.1038/ng.3808 PMID:28669405 (MRD46) AUTHORS Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T TITLE Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. JOURNAL Am J Hum Genet 101:65-74 (2017) DOI:10.1016/j.ajhg.2017.05.016 PMID:28119487 (MRD47) AUTHORS Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gerard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivie H, Park SM, Rauch A, Revencu N, Riviere JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L TITLE STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. JOURNAL J Med Genet 54:479-488 (2017) DOI:10.1136/jmedgenet-2016-104468 PMID:28886345 (MRD48) AUTHORS Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D, Millard TH, Katsanis N, Brunner HG, Banka S TITLE RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. JOURNAL Am J Hum Genet 101:466-477 (2017) DOI:10.1016/j.ajhg.2017.08.007 PMID:27479843 (MRD49 MRD57 MRD62) AUTHORS Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Lohner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C TITLE Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. JOURNAL Nat Neurosci 19:1194-6 (2016) DOI:10.1038/nn.4352 PMID:28191889 (MRD50 MRD51 MRD52) AUTHORS Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjold M, Schenck A, Bernier RA, Eichler EE TITLE Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. JOURNAL Nat Genet 49:515-526 (2017) DOI:10.1038/ng.3792 PMID:29100089 (MRD53 MRD54) AUTHORS Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, Berg J, Carre W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogne B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bezieau S, Odent S, Elgersma Y, Mercier S TITLE De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. JOURNAL Am J Hum Genet 101:768-788 (2017) DOI:10.1016/j.ajhg.2017.10.003 PMID:29100083 (MRD55 MRD56) AUTHORS Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Ounap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafreniere RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL TITLE High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. JOURNAL Am J Hum Genet 101:664-685 (2017) DOI:10.1016/j.ajhg.2017.09.008 PMID:29688601 (MRD58) AUTHORS Stevens SJC, van der Schoot V, Leduc MS, Rinne T, Lalani SR, Weiss MM, van Hagen JM, Lachmeijer AMA, Stockler-Ipsiroglu SG, Lehman A, Brunner HG TITLE De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. JOURNAL Hum Mutat 39:1014-1023 (2018) DOI:10.1002/humu.23541 PMID:30184290 (MRD59) AUTHORS Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Kury S, Elgersma Y, van Woerden GM TITLE The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. JOURNAL Hum Mutat 39:2008-2024 (2018) DOI:10.1002/humu.23647 PMID:31104773 (MRD60) AUTHORS Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Humpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Sterbova K, Hammer TB, Moller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG TITLE A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. JOURNAL Am J Hum Genet 104:1060-1072 (2019) DOI:10.1016/j.ajhg.2019.04.001 PMID:29740699 (MRD61) AUTHORS Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM TITLE De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. JOURNAL Hum Genet 137:375-388 (2018) DOI:10.1007/s00439-018-1887-y PMID:32109419 (MRD63) AUTHORS Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogne B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gerard M, Putoux A, Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D TITLE Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders. JOURNAL Am J Hum Genet 106:338-355 (2020) DOI:10.1016/j.ajhg.2020.01.018 PMID:31723249 (MRD64) AUTHORS Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Genevieve D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Eichler EE, Vincent JB, Bamshad MJ TITLE De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. JOURNAL Genet Med 22:538-546 (2020) DOI:10.1038/s41436-019-0693-9 PMID:33232677 (MRD65) AUTHORS Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB TITLE Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. JOURNAL Am J Hum Genet 107:1170-1177 (2020) DOI:10.1016/j.ajhg.2020.11.001 PMID:35358416 (MRD66) AUTHORS Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H TITLE De novo variants in ATP2B1 lead to neurodevelopmental delay. JOURNAL Am J Hum Genet 109:944-952 (2022) DOI:10.1016/j.ajhg.2022.03.009 PMID:29276005 (MRD68) AUTHORS Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK, Banka S TITLE Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. JOURNAL Am J Hum Genet 102:175-187 (2018) DOI:10.1016/j.ajhg.2017.11.013 PMID:31020005 (MRD69) AUTHORS Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA TITLE Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. JOURNAL Ann Clin Transl Neurol 6:807-811 (2019) DOI:10.1002/acn3.727 PMID:32710489 (MRD70) AUTHORS Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Belanger SA, Lohner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J TITLE Genotype-phenotype correlation at codon 1740 of SETD2. JOURNAL Am J Med Genet A 182:2037-2048 (2020) DOI:10.1002/ajmg.a.61724 PMID:33658631 (MRD71) AUTHORS Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Kury S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW TITLE Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. JOURNAL Genet Med 23:1028-1040 (2021) DOI:10.1038/s41436-021-01114-z PMID:35567594 (MRD72) AUTHORS Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denomme-Pichon AS, Philippe C, Bezieau S, Cogne B TITLE Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder. JOURNAL Genet Med 24:1774-1780 (2022) DOI:10.1016/j.gim.2022.04.011 PMID:35904126 (MRD73) AUTHORS Janssen BDE, van den Boogaard MH, Lichtenbelt K, Seaby EG, Stals K, Ellard S, Newbury-Ecob R, Dixit A, Roht L, Pajusalu S, Ounap K, Firth HV, Buckley M, Wilson M, Roscioli T, Tidwell T, Mao R, Ennis S, Holwerda SJ, van Gassen K, van Jaarsveld RH TITLE De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder. JOURNAL Hum Mutat 43:1844-1851 (2022) DOI:10.1002/humu.24444 |