ArticleMolecular genetics & genomic medicine2023
A de novo variant of BICRA results in Coffin-Siris syndrome 12.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 3 citations in OpenAlex.
- Beyond Neurodevelopmental Delay:Genes · 2026Article
- A Novel Variant in theCase reports in genetics · 2025Article
- A de novo variant of BICRA results in Coffin-Siris syndrome 12.Molecular genetics & genomic medicine · 2023Article
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6 authors at 1 institution in 1 country.
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Abstract
backgroundBICRA, 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.
methodsClinical 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 (<0.01) in exon and canonical splicing sites were selected for further pathogenic evaluation. Candidate variants were validated by Sanger sequencing. The BICRA-related literature was reviewed and the clinical characteristics were summarized.
resultsWe reported a CSS12 proband with a narrow and slightly clinical phenotype who only exhibited language developmental delay, hypotonia, and slight gastrointestinal features. WES revealed a de novo variant in exon 6 of BICRA [NM_015711.3: c.1666C>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.
conclusionOur results expanded the pathogenic genetic and clinical spectrum of BICRA-related diseases.
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