| H00768 | |
| H number | H00768 |
| Name | Autosomal recessive intellectual developmental disorder; Autosomal recessive 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. To date, several causative genes have been identified. These genes have a variety of functions and participate in multiple biochemical pathways. In addition, there are several known disease loci for which genes have not yet been identified. |
| Category | Mental and behavioural disorder |
| Network | nt06029(H00768) Glycosaminoglycan biosynthesis nt06506(H00768) Double-strand break repair nt06528(H00768) Calcium signaling |
| Gene | (MRT1) PRSS12 [HSA:8492] [KO:K09624] (MRT2) CRBN [HSA:51185] [KO:K11793] (MRT3) CC2D1A [HSA:54862] [KO:K18260] (MRT5) NSUN2 [HSA:54888] [KO:K15335] (MRT6) GRIK2 [HSA:2898] [KO:K05202] (MRT7) TUSC3 [HSA:7991] [KO:K19478] (MRT12) ST3GAL3 [HSA:6487] [KO:K00781] (MRT13) TRAPPC9 [HSA:83696] [KO:K20306] (MRT14) TECR [HSA:9524] [KO:K10258] (MRT15) MAN1B1 [HSA:11253] [KO:K23741] (MRT18) MED23 [HSA:9439] [KO:K15166] (MRT27) LINS1 [HSA:55180] [KO:K22533] (MRT34) CRADD [HSA:8738] [KO:K02832] (MRT36) ADAT3 [HSA:113179] [KO:K15442] (MRT37) ANK3 [HSA:288] [KO:K10380] (MRT38) HERC2 [HSA:8924] [KO:K10595] (MRT39) TTI2 [HSA:80185] [KO:K23115] (MRT40) TAF2 [HSA:6873] [KO:K03128] (MRT41) KPTN [HSA:11133] [KO:K23295] (MRT42) PGAP1 [HSA:80055] [KO:K05294] (MRT43) WASHC4 [HSA:23325] [KO:K18465] (MRT44) METTL23 [HSA:124512] [KO:K23151] (MRT45) FBXO31 [HSA:79791] [KO:K10308] (MRT46) NDST1 [HSA:3340] [KO:K02576] (MRT47) FMN2 [HSA:56776] [KO:K02184] (MRT48) SLC6A17 [HSA:388662] [KO:K05048] (MRT49) GPT2 [HSA:84706] [KO:K00814] (MRT50) EDC3 [HSA:80153] [KO:K12615] (MRT51) HNMT [HSA:3176] [KO:K00546] (MRT52) LMAN2L [HSA:81562] [KO:K10083] (MRT53) PIGG [HSA:54872] [KO:K05310] (MRT54) TNIK [HSA:23043] [KO:K08840] (MRT55) PUS3 [HSA:83480] [KO:K01855] (MRT56) ZC3H14 [HSA:79882] [KO:K23038] (MRT57) MBOAT7 [HSA:79143] [KO:K13516] (MRT58) ELP2 [HSA:55250] [KO:K11374] (MRT59) IMPA1 [HSA:3612] [KO:K01092] (MRT60) TAF13 [HSA:6884] [KO:K03127] (MRT61) RUSC2 [HSA:9853] [KO:K23291] (MRT62) PIGC [HSA:5279] [KO:K03859] (MRT63) CAMK2A [HSA:815] [KO:K04515] (MRT64) LINGO1 [HSA:84894] [KO:K23533] (MRT65) KDM5B [HSA:10765] [KO:K11446] (MRT66) C12orf4 [HSA:57102] (MRT67) EIF3F [HSA:8665] [KO:K03249] (MRT68) TRMT1 [HSA:55621] [KO:K00555] (MRT69) ZBTB11 [HSA:27107] [KO:K10498] (MRT70) RSRC1 [HSA:51319] [KO:K24594] (MRT71) ALKBH8 [HSA:91801] [KO:K10770] (MRT72) METTL5 [HSA:29081] [KO:K24418] (MRT73) NAA20 [HSA:51126] [KO:K17972] (MRT74) APC2 [HSA:10297] [KO:K02085] (MRT75) PIDD1 [HSA:55367] [KO:K10130] (MRT76) GRIA1 [HSA:2890] [KO:K05197] (MRT77) CEP104 [HSA:9731] [KO:K16458] (MRT78) WDR11 [HSA:55717] [KO:K24260] (MRT79) TPR [HSA:7175] [KO:K09291] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 6A00 ICD-10: F78.9 MeSH: D008607 OMIM: 249500 607417 608443 611091 611092 611093 611090 613192 614020 614202 614249 614340 614499 615286 615493 615516 615541 615599 615637 615802 615817 615942 615979 616116 616193 616269 616281 616460 616739 616887 616917 617028 617051 617125 617188 617270 617323 617432 617773 617816 618095 618103 618109 618221 618295 608302 618383 618402 618504 618665 619717 617169 619827 619931 619988 620237 620393 |
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JOURNAL Eur J Neurosci 30:2368-78 (2009) DOI:10.1111/j.1460-9568.2009.07029.x PMID:17380424 (MRT2) AUTHORS Xin W, Xiaohua N, Peilin C, Xin C, Yaqiong S, Qihan W TITLE Primary function analysis of human mental retardation related gene CRBN. JOURNAL Mol Biol Rep 35:251-6 (2008) DOI:10.1007/s11033-007-9077-3 PMID:17714190 (MRT3) AUTHORS Rogaeva A, Albert PR TITLE The mental retardation gene CC2D1A/Freud-1 encodes a long isoform that binds conserved DNA elements to repress gene transcription. JOURNAL Eur J Neurosci 26:965-74 (2007) DOI:10.1111/j.1460-9568.2007.05727.x PMID:22541559 (MRT5) AUTHORS Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weissmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW TITLE Mutations in NSUN2 cause autosomal-recessive intellectual disability. JOURNAL Am J Hum Genet 90:847-55 (2012) DOI:10.1016/j.ajhg.2012.03.021 PMID:17847003 (MRT6) AUTHORS Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW TITLE A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. JOURNAL Am J Hum Genet 81:792-8 (2007) DOI:10.1086/521275 PMID:18452889 (MRT7) AUTHORS Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW TITLE A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. JOURNAL Am J Hum Genet 82:1158-64 (2008) DOI:10.1016/j.ajhg.2008.03.018 PMID:21907012 (MRT12) AUTHORS Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Muhlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW TITLE ST3GAL3 mutations impair the development of higher cognitive functions. JOURNAL Am J Hum Genet 89:407-14 (2011) DOI:10.1016/j.ajhg.2011.08.008 PMID:20004765 (MRT13) AUTHORS Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB TITLE Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. JOURNAL Am J Hum Genet 85:909-15 (2009) DOI:10.1016/j.ajhg.2009.11.009 PMID:21212097 (MRT14) AUTHORS Caliskan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C TITLE Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. JOURNAL Hum Mol Genet 20:1285-9 (2011) DOI:10.1093/hmg/ddq569 PMID:21763484 (MRT15) AUTHORS Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H TITLE Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. JOURNAL Am J Hum Genet 89:176-82 (2011) DOI:10.1016/j.ajhg.2011.06.006 PMID:21868677 (MRT18) AUTHORS Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L TITLE MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. JOURNAL Science 333:1161-3 (2011) DOI:10.1126/science.1206638 PMID:21937992 (MRT27 MRT39 MRT40 MRT58 MRT68) AUTHORS Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH TITLE Deep sequencing reveals 50 novel genes for recessive cognitive disorders. JOURNAL Nature 478:57-63 (2011) DOI:10.1038/nature10423 PMID:22279524 (MRT34) AUTHORS Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA TITLE Genetic mapping and exome sequencing identify variants associated with five novel diseases. JOURNAL PLoS One 7:e28936 (2012) DOI:10.1371/journal.pone.0028936 PMID:23620220 (MRT36) AUTHORS Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS TITLE Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. JOURNAL J Med Genet 50:425-30 (2013) DOI:10.1136/jmedgenet-2012-101378 PMID:23390136 (MRT37) AUTHORS Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L TITLE Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. JOURNAL Hum Mol Genet 22:1960-70 (2013) DOI:10.1093/hmg/ddt043 PMID:23243086 (MRT38) AUTHORS Harlalka GV, Baple EL, Cross H, Kuhnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH TITLE Mutation of HERC2 causes developmental delay with Angelman-like features. JOURNAL J Med Genet 50:65-73 (2013) DOI:10.1136/jmedgenet-2012-101367 PMID:24239382 (MRT41) AUTHORS Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH TITLE Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. JOURNAL Am J Hum Genet 94:87-94 (2014) DOI:10.1016/j.ajhg.2013.10.001 PMID:24784135 (MRT42) AUTHORS Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA TITLE Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. JOURNAL PLoS Genet 10:e1004320 (2014) DOI:10.1371/journal.pgen.1004320 PMID:21498477 (MRT43) AUTHORS Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nurnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A TITLE Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. JOURNAL Hum Mol Genet 20:2585-90 (2011) DOI:10.1093/hmg/ddr158 PMID:24626631 (MRT44) AUTHORS Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Muller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC TITLE Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. JOURNAL Hum Mol Genet 23:4015-23 (2014) DOI:10.1093/hmg/ddu115 PMID:24623383 (MRT45) AUTHORS Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB TITLE Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family. JOURNAL Hum Genet 133:975-84 (2014) DOI:10.1007/s00439-014-1438-0 PMID:25125150 (MRT46) AUTHORS Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K TITLE NDST1 missense mutations in autosomal recessive intellectual disability. JOURNAL Am J Med Genet A 164A:2753-63 (2014) DOI:10.1002/ajmg.a.36723 PMID:25480035 (MRT47) AUTHORS Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG TITLE Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. JOURNAL Am J Hum Genet 95:721-8 (2014) DOI:10.1016/j.ajhg.2014.10.016 PMID:25704603 (MRT48) AUTHORS Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H TITLE Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. JOURNAL Am J Hum Genet 96:386-96 (2015) DOI:10.1016/j.ajhg.2015.01.010 PMID:27601654 (MRT49) AUTHORS Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM TITLE Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. JOURNAL Proc Natl Acad Sci U S A 113:E5598-607 (2016) DOI:10.1073/pnas.1609221113 PMID:25701870 (MRT50) AUTHORS Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA TITLE Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. JOURNAL Hum Mol Genet 24:3172-80 (2015) DOI:10.1093/hmg/ddv069 PMID:26206890 (MRT51) AUTHORS Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB TITLE Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. JOURNAL Hum Mol Genet 24:5697-710 (2015) DOI:10.1093/hmg/ddv286 PMID:26566883 (MRT52) AUTHORS Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S TITLE Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. JOURNAL J Med Genet 53:138-44 (2016) DOI:10.1136/jmedgenet-2015-103179 PMID:26996948 (MRT53) AUTHORS Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y TITLE Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. JOURNAL Am J Hum Genet 98:615-26 (2016) DOI:10.1016/j.ajhg.2016.02.007 PMID:27106596 (MRT54) AUTHORS Anazi S, Shamseldin HE, AlNaqeb D, Abouelhoda M, Monies D, Salih MA, Al-Rubeaan K, Alkuraya FS TITLE A null mutation in TNIK defines a novel locus for intellectual disability. JOURNAL Hum Genet 135:773-8 (2016) DOI:10.1007/s00439-016-1671-9 PMID:27055666 (MRT55) AUTHORS Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS TITLE A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. JOURNAL Hum Genet 135:707-13 (2016) DOI:10.1007/s00439-016-1665-7 PMID:21734151 (MRT56) AUTHORS Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW TITLE Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. JOURNAL Proc Natl Acad Sci U S A 108:12390-5 (2011) DOI:10.1073/pnas.1107103108 PMID:27616480 (MRT57) AUTHORS Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R TITLE Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. JOURNAL Am J Hum Genet 99:912-916 (2016) DOI:10.1016/j.ajhg.2016.07.019 PMID:26416544 (MRT59) AUTHORS Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S TITLE A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability. JOURNAL Mol Psychiatry 21:1125-9 (2016) DOI:10.1038/mp.2015.150 PMID:28257693 (MRT60) AUTHORS Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R TITLE Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. JOURNAL Am J Hum Genet 100:555-561 (2017) DOI:10.1016/j.ajhg.2017.01.032 PMID:27612186 (MRT61) AUTHORS Alwadei AH, Benini R, Mahmoud A, Alasmari A, Kamsteeg EJ, Alfadhel M TITLE Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly. JOURNAL Dev Med Child Neurol 58:1317-1322 (2016) DOI:10.1111/dmcn.13250 PMID:27694521 (MRT62) AUTHORS Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O TITLE Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability. JOURNAL J Med Genet 54:196-201 (2017) DOI:10.1136/jmedgenet-2016-104202 PMID:29784083 (MRT63) AUTHORS Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B TITLE A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. JOURNAL Elife 7:e32451 (2018) DOI:10.7554/eLife.32451 PMID:28837161 (MRT64) AUTHORS Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H, Antonarakis SE TITLE Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. JOURNAL Genet Med 20:778-784 (2018) DOI:10.1038/gim.2017.113 PMID:29276005 (MRT65) 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. 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JOURNAL Arch Iran Med 24:364-373 (2021) DOI:10.34172/aim.2021.53 PMID:34413497 (MRT78) AUTHORS Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, Lai AHM, Brett M, Mochida GH, DiTroia S, Pais L, Neil JE, Al-Saffar M, Bastaki L, Walsh CA, Kurth I, Knopp C TITLE Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. JOURNAL Eur J Hum Genet 29:1663-1668 (2021) DOI:10.1038/s41431-021-00943-5 PMID:34494102 (MRT79) AUTHORS Van Bergen NJ, Bell KM, Carey K, Gear R, Massey S, Murrell EK, Gallacher L, Pope K, Lockhart PJ, Kornberg A, Pais L, Walkiewicz M, Simons C, Wickramasinghe VO, White SM, Christodoulou J TITLE Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. JOURNAL Hum Mol Genet 31:362-375 (2022) DOI:10.1093/hmg/ddab248 |