WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

doi:10.3390/ijms24108729

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Article

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

International journal of molecular sciences - 13 May 2023

Karam Adella, Delvallée Clarisse, Estrada-Cuzcano Alejandro, Geoffroy Véronique, Lamouche Jean-Baptiste, Leuvrey Anne-Sophie, Nourisson Elsa, Tarabeux Julien, Stoetzel Corinne, Scheidecker Sophie, Porter Louise Frances, Génin Emmanuelle, Redon Richard, Sandron Florian, Boland Anne, Deleuze Jean-François, Le May Nicolas, Dollfus Hélène, Muller Jean

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants have been identified in at least 24 genes delineating the genetic heterogeneity of BBS. Among those, BBS5 is a minor contributor to the mutation load and is one of the...

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PMID: 37240074
DOI: 10.3390/ijms24108729
PMCID: PMC10218572

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