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

Cardiol Young. 2022 May;32(5):821-823. doi: 10.1017/S1047951121003826. Epub 2021 Sep 15.

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: Nicolaides–Baraitser syndrome; SMARCA2 gene; hypertrophic cardiomyopathy.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Hypertrophic* / complications
  • Cardiomyopathy, Hypertrophic* / diagnosis
  • Cardiomyopathy, Hypertrophic* / genetics
  • Child
  • Facies
  • Foot Deformities, Congenital
  • Gene Deletion
  • Humans
  • Hypotrichosis
  • Intellectual Disability* / complications
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Phenotype
  • Transcription Factors / genetics

Substances

  • SMARCA2 protein, human
  • Transcription Factors

Supplementary concepts

  • Nicolaides Baraitser syndrome