KEGG DISEASE: 白内障・難聴・ネフローゼ症候群および腸炎

DISEASE: 白内障・難聴・ネフローゼ症候群および腸炎

エントリ

H03003

名称

白内障・難聴・ネフローゼ症候群および腸炎

概要

Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis (CHINE) is a novel syndrome. It has been reported that mutations in DKC1 or NOP10 cause this syndrome. DKC1 and NOP10 belong to a family of ribonucleoproteins that play a crucial role in maintaining proper telomere function and RNA maturation through pseudouridylation. Both mutations fall at the dyskerin-NOP10 binding interface, impair their interaction, and disrupt the catalytic pseudouridylation site. It has been proposed that this syndrome is the consequence of defective snoRNP pseudouridylation and ribosomal dysfunction.

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
    H03003  白内障・難聴・ネフローゼ症候群および腸炎

病因遺伝子

(CHINE1) DKC1 [HSA:1736] [KO:K11131]
(CHINE2) NOP10 [HSA:55505] [KO:K11130]

リンク

ICD-11:

LD2F.Y

OMIM:

301108 620425

文献

PMID:32554502

著者

Balogh E, Chandler JC, Varga M, Tahoun M, Menyhard DK, Schay G, Goncalves T, Hamar R, Legradi R, Szekeres A, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szocs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Javorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Gotze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nurnberg P, Perczel A, Szabo AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K

タイトル

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

雑誌

Proc Natl Acad Sci U S A 117:15137-15147 (2020)
DOI:10.1073/pnas.2002328117

LinkDB

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