Nicolaides–Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion
Open Access
- 15 September 2021
- journal article
- research article
- Published by Cambridge University Press (CUP) in Cardiology in the Young
- Vol. 32 (5), 821-823
- https://doi.org/10.1017/s1047951121003826
Abstract
Nicolaides–Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly, triangular facies, sparse hair, brachydactyly, prominent interphalangeal joints and seizures. Genetic testing demonstrated a loss within SMARCA2 at 9p24.3 inclusive of basepairs 2094861_2141830 (hg19) in our patient. This case highlights a child with Nicolaides–Baraiter syndrome, a SMARCA2 gene deletion and a novel association of hypertrophic obstructive cardiomyopathy.Keywords
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