Nicolaides Baraister syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Nicolaides Baraister syndrome. It is usually caused by mutations in the SMARCA2 gene. Fully referenced neurology checklist.
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
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Dysmorphic features
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Limb features
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Neurological features
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Ophthalmic features
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Systemic features
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Investigations
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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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