Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant

Clin Dysmorphol. 2020 Oct;29(4):189-192. doi: 10.1097/MCD.0000000000000336.

Abstract

Nicolaides-Baraitser syndrome (NCBRS) (OMIM 601358) is an uncommon but well-recognized autosomal dominant entity that is characterized by sparse scalp hair, characteristic coarse facies, microcephaly, seizures, developmental delay, intellectual disability (ID) and prominence of the interphalangeal joints and distal phalanges. Seizures are also common finding besides developmental delay and ID, which is severe approximately in half, moderate in one third and mild in the remainder. Here, we report two Turkish patients with NCBRS. One has a novel variant [NM_003070.5:c.3389G>T p.(Gly1130Val)] and a mild-moderate phenotype, and the other has a known variant [NM_003070.5:c.2554G>A p.(Glu852Lys)] correlated with severe phenotype.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Facies
  • Female
  • Foot Deformities, Congenital / diagnosis*
  • Foot Deformities, Congenital / genetics*
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Genetic Variation*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Hypotrichosis / diagnosis*
  • Hypotrichosis / genetics*
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Male
  • Mutation
  • Phenotype*
  • Transcription Factors / genetics*

Substances

  • SMARCA2 protein, human
  • Transcription Factors

Supplementary concepts

  • Nicolaides Baraitser syndrome