KEGG DISEASE: 眼瞼裂狭小・知的発達障害症候群

DISEASE: 眼瞼裂狭小・知的発達障害症候群

エントリ

H02974                      Disease

名称

眼瞼裂狭小・知的発達障害症候群

概要

Blepharophimosis-impaired intellectual development syndrome (BIS) is a rare genetic syndrome characterized by epicanthal folds, blepharophimosis, and downturned nasal tip along with variable degree of intellectual disability. It has been reported that mutations in SMARCA2 cause BIS. SMARCA2 encodes a catalytic subunit of SWI/SNF chromatin remodeling complex and its mutations cause Nicolaides-Baraitser syndrome [DS:H01402]. It has been identified that BIS is associated with clustered de novo SMARCA2 variants outside the helicase domains, and phenotypically and molecularly distinct from Nicolaides-Baraitser syndrome.

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
LD90 関連する臨床的特徴として知的発達障害を伴う病状
H02974 眼瞼裂狭小・知的発達障害症候群

病因遺伝子

SMARCA2 [HSA:6595] [KO:K11647]

リンク

ICD-11:

LD90.Y

OMIM:

619293

文献

PMID:32694869

著者

Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sa J, Low KJ, Dias C, Havlovicova M, Hancarova M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K, Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N

タイトル

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.

雑誌

Genet Med 22:1838-1850 (2020)
DOI:10.1038/s41436-020-0898-y

LinkDB

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