Identification of a novel pathogenic variant in the BBS9 gene in three family members with Bardet-Biedl syndrome

Abstract

   Bardet-Biedl syndrome (BBS) is a rare genetic disorder from the group of ciliopathies, characterized by multi-organ involvement. This study presents the clinical and genetic characteristics of a family with BBS caused by a novel pathogenic variant in the BBS9 gene. A previously undescribed variant c.288del (p.Val97CysfsTer27) in the BBS9 gene was identified in homozygous state in three siblings with clinical manifestations of BBS and in heterozygous state in their parents. The main symptoms included retinitis pigmentosa, renal anomalies, obesity, delayed speech development and polydactyly. The results confirm the important role of the BBS9 gene in the pathogenesis of this syndrome.