Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12

Brain Dev. 2023 Mar;45(3):185-190. doi: 10.1016/j.braindev.2022.11.003. Epub 2022 Nov 24.

Abstract

Background: Pathogenic heterozygous variants in BICRA have recently been identified in patients with SWI/SNF-related intellectual disability (SSRIDD) - Coffin-Siris syndrome 12. So far, only one article reported SSRIDD associated with pathogenic variants in BICRA.

Case presentation: The patient's phenotype include low birth weight, microcephaly, neurodevelopment delay, visual, gastrointestinal, urinary tract impairment, and craniofacial dysmorphism. Whole exome sequencing revealed a novel pathogenic heterozygous variant in exon 6 of BICRA gene c.535C > T (p.(Gln179*)). Sanger sequencing confirmed de novo origin.

Conclusion: The clinical findings confirm and supplement the previous study which showed that pathogenic variant in BICRA is commonly characterized by neurodevelopmental, gastrointestinal, and ophthalmologic symptoms, growth retardation, as well as craniofacial dysmorphism.

Keywords: BICRA; Coffin-Siris syndrome 12; Exome sequencing; Neurodevelopmental disorder; SSRIDD.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • DNA-Binding Proteins / genetics
  • Face / abnormalities
  • Hand Deformities, Congenital* / diagnosis
  • Hand Deformities, Congenital* / genetics
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Micrognathism* / diagnosis
  • Micrognathism* / genetics
  • Neck / abnormalities
  • Phenotype
  • Transcription Factors / genetics

Substances

  • DNA-Binding Proteins
  • Transcription Factors

Supplementary concepts

  • Coffin-Siris syndrome