H00768 | |
H番号 | H00768 |
名称 | 常染色体劣性遺伝性知的発達障害; 常染色体劣性遺伝性精神遅滞 |
概要 | 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. |
カテゴリ | 精神及び行動の障害 |
ネットワーク | nt06029(H00768) Glycosaminoglycan biosynthesis nt06506(H00768) Double-strand break repair nt06528(H00768) Calcium signaling |
病因遺伝子 | (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] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | 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 |
文献 | PMID:21063731 著者 Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H タイトル Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 雑誌 Hum Genet 129:141-8 (2011) DOI:10.1007/s00439-010-0907-3 PMID:20092579 (MRT1) 著者 Mitsui S, Osako Y, Yokoi F, Dang MT, Yuri K, Li Y, Yamaguchi N タイトル A mental retardation gene, motopsin/neurotrypsin/prss12, modulates hippocampal function and social interaction. 雑誌 Eur J Neurosci 30:2368-78 (2009) DOI:10.1111/j.1460-9568.2009.07029.x PMID:17380424 (MRT2) 著者 Xin W, Xiaohua N, Peilin C, Xin C, Yaqiong S, Qihan W タイトル Primary function analysis of human mental retardation related gene CRBN. 雑誌 Mol Biol Rep 35:251-6 (2008) DOI:10.1007/s11033-007-9077-3 PMID:17714190 (MRT3) 著者 Rogaeva A, Albert PR タイトル The mental retardation gene CC2D1A/Freud-1 encodes a long isoform that binds conserved DNA elements to repress gene transcription. 雑誌 Eur J Neurosci 26:965-74 (2007) DOI:10.1111/j.1460-9568.2007.05727.x PMID:22541559 (MRT5) 著者 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 タイトル Mutations in NSUN2 cause autosomal-recessive intellectual disability. 雑誌 Am J Hum Genet 90:847-55 (2012) DOI:10.1016/j.ajhg.2012.03.021 PMID:17847003 (MRT6) 著者 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 タイトル A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. 雑誌 Am J Hum Genet 81:792-8 (2007) DOI:10.1086/521275 PMID:18452889 (MRT7) 著者 Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW タイトル A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. 雑誌 Am J Hum Genet 82:1158-64 (2008) DOI:10.1016/j.ajhg.2008.03.018 PMID:21907012 (MRT12) 著者 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 タイトル ST3GAL3 mutations impair the development of higher cognitive functions. 雑誌 Am J Hum Genet 89:407-14 (2011) DOI:10.1016/j.ajhg.2011.08.008 PMID:20004765 (MRT13) 著者 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 タイトル Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. 雑誌 Am J Hum Genet 85:909-15 (2009) DOI:10.1016/j.ajhg.2009.11.009 PMID:21212097 (MRT14) 著者 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 タイトル Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. 雑誌 Hum Mol Genet 20:1285-9 (2011) DOI:10.1093/hmg/ddq569 PMID:21763484 (MRT15) 著者 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 タイトル Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. 雑誌 Am J Hum Genet 89:176-82 (2011) DOI:10.1016/j.ajhg.2011.06.006 PMID:21868677 (MRT18) 著者 Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L タイトル MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. 雑誌 Science 333:1161-3 (2011) DOI:10.1126/science.1206638 PMID:21937992 (MRT27 MRT39 MRT40 MRT58 MRT68) 著者 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 タイトル Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 雑誌 Nature 478:57-63 (2011) DOI:10.1038/nature10423 PMID:22279524 (MRT34) 著者 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 タイトル Genetic mapping and exome sequencing identify variants associated with five novel diseases. 雑誌 PLoS One 7:e28936 (2012) DOI:10.1371/journal.pone.0028936 PMID:23620220 (MRT36) 著者 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 タイトル Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. 雑誌 J Med Genet 50:425-30 (2013) DOI:10.1136/jmedgenet-2012-101378 PMID:23390136 (MRT37) 著者 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 タイトル Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. 雑誌 Hum Mol Genet 22:1960-70 (2013) DOI:10.1093/hmg/ddt043 PMID:23243086 (MRT38) 著者 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 タイトル Mutation of HERC2 causes developmental delay with Angelman-like features. 雑誌 J Med Genet 50:65-73 (2013) DOI:10.1136/jmedgenet-2012-101367 PMID:24239382 (MRT41) 著者 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 タイトル Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. 雑誌 Am J Hum Genet 94:87-94 (2014) DOI:10.1016/j.ajhg.2013.10.001 PMID:24784135 (MRT42) 著者 Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA タイトル Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. 雑誌 PLoS Genet 10:e1004320 (2014) DOI:10.1371/journal.pgen.1004320 PMID:21498477 (MRT43) 著者 Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nurnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A タイトル Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. 雑誌 Hum Mol Genet 20:2585-90 (2011) DOI:10.1093/hmg/ddr158 PMID:24626631 (MRT44) 著者 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 タイトル Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 雑誌 Hum Mol Genet 23:4015-23 (2014) DOI:10.1093/hmg/ddu115 PMID:24623383 (MRT45) 著者 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 タイトル Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family. 雑誌 Hum Genet 133:975-84 (2014) DOI:10.1007/s00439-014-1438-0 PMID:25125150 (MRT46) 著者 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 タイトル NDST1 missense mutations in autosomal recessive intellectual disability. 雑誌 Am J Med Genet A 164A:2753-63 (2014) DOI:10.1002/ajmg.a.36723 PMID:25480035 (MRT47) 著者 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 タイトル Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. 雑誌 Am J Hum Genet 95:721-8 (2014) DOI:10.1016/j.ajhg.2014.10.016 PMID:25704603 (MRT48) 著者 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 タイトル Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. 雑誌 Am J Hum Genet 96:386-96 (2015) DOI:10.1016/j.ajhg.2015.01.010 PMID:27601654 (MRT49) 著者 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 タイトル Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. 雑誌 Proc Natl Acad Sci U S A 113:E5598-607 (2016) DOI:10.1073/pnas.1609221113 PMID:25701870 (MRT50) 著者 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 タイトル Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. 雑誌 Hum Mol Genet 24:3172-80 (2015) DOI:10.1093/hmg/ddv069 PMID:26206890 (MRT51) 著者 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 タイトル Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. 雑誌 Hum Mol Genet 24:5697-710 (2015) DOI:10.1093/hmg/ddv286 PMID:26566883 (MRT52) 著者 Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S タイトル Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. 雑誌 J Med Genet 53:138-44 (2016) DOI:10.1136/jmedgenet-2015-103179 PMID:26996948 (MRT53) 著者 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 タイトル Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. 雑誌 Am J Hum Genet 98:615-26 (2016) DOI:10.1016/j.ajhg.2016.02.007 PMID:27106596 (MRT54) 著者 Anazi S, Shamseldin HE, AlNaqeb D, Abouelhoda M, Monies D, Salih MA, Al-Rubeaan K, Alkuraya FS タイトル A null mutation in TNIK defines a novel locus for intellectual disability. 雑誌 Hum Genet 135:773-8 (2016) DOI:10.1007/s00439-016-1671-9 PMID:27055666 (MRT55) 著者 Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS タイトル A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. 雑誌 Hum Genet 135:707-13 (2016) DOI:10.1007/s00439-016-1665-7 PMID:21734151 (MRT56) 著者 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 タイトル Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. 雑誌 Proc Natl Acad Sci U S A 108:12390-5 (2011) DOI:10.1073/pnas.1107103108 PMID:27616480 (MRT57) 著者 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 タイトル Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. 雑誌 Am J Hum Genet 99:912-916 (2016) DOI:10.1016/j.ajhg.2016.07.019 PMID:26416544 (MRT59) 著者 Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S タイトル A homozygous loss-of-function mutation in inositol 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