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

Published:November 24, 2022DOI:



      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.


      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.



      ACMG (the American College of Medical Genetics and Genomics Guidelines), AMP (the Association for Molecular Pathology), HGMD (Human Gene Mutation Database), CADD (Combined Annotation Dependent Depletion), GERP (Genomic Evolutionary Rate Profiling), gnomAD (Genome Aggregation Database), 1000G (1000 Genomes Project)
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