KEGG DISEASE: Guillouet-Gordon 症候群

DISEASE: Guillouet-Gordon 症候群

エントリ

H02961

名称

Guillouet-Gordon 症候群

概要

Guillouet-Gordon syndrome (GGNS) is a novel multiple congenital anomalies-intellectual disability syndrome characterized by intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations. It has been reported that biallelic mutations in MED16 cause this syndrome. MED16 is a subunit of the evolutionarily conserved Mediator complex that regulates protein-coding gene transcription by coordinating the interaction of upstream enhancers with the basal transcription machinery at the promoter.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02961  Guillouet-Gordon 症候群

病因遺伝子

MED16 [HSA:10025] [KO:K15159]

リンク

ICD-11:

LD2F.Y

OMIM:

621220

文献

PMID:40081376

著者

Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, Georget M, Schatz U, Fauth C, Louie RJ, Rogers C, Davis JM, Konstantopoulou V, Mayr JA, Bouman A, Wilke M, VanNoy GE, England EM, Park KL, Brown K, Saenz M, Novelli A, Digilio MC, Mastromoro G, Rongioletti MCA, Piacentini G, Kaiyrzhanov R, Guliyeva S, Hasanova L, Shears D, Bhatnagar I, Stals K, Klaas O, Horvath J, Bouvagnet P, Witmer PD, MacCarrick G, Cisarova K, Good JM, Gorokhova S, Boute O, Smol T, Bruel AL, Patat O, Broadbent JR, Tan TY, Tan NB, Lyonnet S, Busa T, Graziano C, Amiel J, Gordon CT

タイトル

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

雑誌

Am J Hum Genet 112:829-845 (2025)
DOI:10.1016/j.ajhg.2025.02.016

LinkDB

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