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

Published:November 24, 2022DOI:https://doi.org/10.1016/j.braindev.2022.11.003

      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

      Abbreviations:

      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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      References

        • Mashtalir N.
        • D’Avino A.R.
        • Michel B.C.
        • Luo J.
        • Pan J.
        • Otto J.E.
        • et al.
        Modular organization and assembly of SWI/SNF family chromatin remodeling complexes.
        Cel. 2018; 175: 1272-1288
        • Clapier C.R.
        • Cairns B.R.
        The biology of chromatin remodeling complexes.
        Annu Rev Biochem. 2009; 78: 273-304
        • Kwon H.
        • Imbalzano A.N.
        • Khavari P.A.
        • Kingston R.E.
        • Green M.R.
        Nucleosome disruption and enhancement of activator binding by a human SW1/SNF complex.
        Nature. 1994; 370: 477-481
        • Santen G.W.E.
        • Kriek M.
        • van Attikum H.
        SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
        Epigenetics. 2012; 7: 1219-1224
        • Bögershausen N.
        • Wollnik B.
        Mutational landscapes and phenotypic spectrum of SWI/SNF-related intellectual disability disorders.
        Front Mol Neurosci. 2018; 11: 252
        • Yang P.
        • Kollmeyer T.M.
        • Buckner K.
        • Bamlet W.
        • Ballman K.V.
        • Jenkins R.B.
        Polymorphisms in GLTSCR1 and ERCC2 are associated with the development of oligodendrogliomas.
        Cancer. 2005; 103: 2363-2372
        • Barish S.
        • Barakat T.S.
        • Michel B.C.
        • Mashtalir N.
        • Phillips J.B.
        • Valencia A.M.
        • et al.
        BICRA, a SWI/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms.
        Am J Hum Genet. 2020; 107: 1096-1112
        • Richards S.
        • Aziz N.
        • Bale S.
        • Bick D.
        • Das S.
        • Gastier-Foster J.
        • et al.
        Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
        Genet Med. 2015; 17: 405-424
        • Kosho T.
        • Okamoto N.
        • Ohashi H.
        • Tsurusaki Y.
        • Imai Y.
        • Hibi-Ko Y.
        • et al.
        Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature.
        Am J Med Genet Part A. 2013; 161: 1221-1237
        • Pallotta R.
        Ocular anomalies in Coffin-Siris syndrome.
        Ophthalmic Paediatr Genet. 1985; 6: 349-352
        • Mannino E.A.
        • Miyawaki H.
        • Santen G.
        • Schrier Vergano S.A.
        First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.
        Am J Med Genet A. 2018; 176: 2250-2258