Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion

Ross Foley, Sophie Duignan, Linda McArdle, David R Betts, Andrew Green, Colin J McMahon*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Article number1047951121003826
Pages (from-to)821-823
Number of pages3
JournalCardiology in the Young
Volume32
Issue number5
Early online date15 Sept 2021
DOIs
Publication statusPublished - May 2022

Keywords

  • Nicolaides-Baraitser syndrome
  • SMARCA2 gene
  • hypertrophic cardiomyopathy

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