KEGG   DISEASE: Blepharophimosis-impaired intellectual development syndrome
Entry
H02974                      Disease                                
Name
Blepharophimosis-impaired intellectual development syndrome
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02974  Blepharophimosis-impaired intellectual development syndrome
Gene
SMARCA2 [HSA:6595] [KO:K11647]
Other DBs
ICD-11: LD90.Y
OMIM: 619293
Reference
PMID:32694869
  Authors
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
  Title
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct  from Nicolaides-Baraitser syndrome.
  Journal
Genet Med 22:1838-1850 (2020)
DOI:10.1038/s41436-020-0898-y
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