Nicolaides Baraister syndrome
Evidence-based neurology checklist on nicolaides baraister syndrome: Genetics mutations It is usually caused by mutations in the SMARCA2 gene It may be caused by ARID1B gene mutations The transmission is autosomal dominant Other BAF complex disorders Dysmorphic features Limb features Neurological…
Genetics mutations
- It is usually caused by mutations in the SMARCA2 gene
- It may be caused by ARID1B gene mutations
- The transmission is autosomal dominant
Other BAF complex disorders
Dysmorphic features
Limb features
Neurological features
Ophthalmic features
Systemic features
Investigations
References
- Kosho T, Miyake N, Carey JC. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. Am J Med Genet C Semin Med Genet 2014; 166C:241-251.
- Santen GW, Aten E, Vulto-van Silfhout AT, et al. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat 2013; 34:1519-1528.
- Pascolini G, Valiante M, Bottillo I, Laino L, Fleischer N, Ferraris A, Grammatico P. Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion. Eur J Med Genet 2020; 63:103739.
- Sánchez AI, Rojas JA. A SMARCA2 mutation in the first case report of Nicolaides-Baraitser syndrome in Latin America: genotype-phenotype correlation. Case Rep Genet 2017; 2017:8639617.
- Mari F, Marozza A, Mencarelli MA, et al. Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. Brain Dev 2015; 37:527-536.
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