A de novo variant of BICRA results in Coffin–Siris syndrome 12

Abstract

Abstract Background BICRA, a transcript regulator, was identified as the genetic factor of Coffin–Siris syndrome 12 (CSS12) recently, which was characterized by diverse neurodevelopmental delays. Up to now, limited studies of BICRA in neurodevelopmental delay have been reported. Methods Clinical data such as EEGs, MRIs, routine blood, and physical examination were collected. Trio whole exome sequencing (WES) of the family was performed, and all variants with a minor allele frequency (T, p.Gln556*]. This variant resulted in an early translation termination at 556th of BICRA, not collected in the public population database (gnomAD), and classified as pathogenic according to the ACMG guideline. Conclusion Our results expanded the pathogenic genetic and clinical spectrum of BICRA‐related diseases.

Keywords

• BICRA
• Coffin–Siris syndrome 12
• developmental delay
• stop gain
• variant