Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey

Background Bardet-Biedl syndrome (BBS) is a very-rare autosomal recessive genetic disorder with severe multisystem manifestations. Genetic testing plays an important role in the early diagnosis of the disease. In this study, while trying to elucidate the genetic etiology of seven individuals with clinical BBS diagnosis from six different families, we also aimed to examine the distribution of BBS variations in this region of Turkey. Methods and materials Exome sequencing analysis is performed for clinically diagnosed patients with BBS in the present study followed by parental segregation. The unreported and previously described clinical features are presented. Results Homozygous variants, four of which are unreported, in BBS-related genes (BBS5 [c.682-2A > G],MKKS [c.775del],BBS7 [c.849+1G > T],BBS9 [c.965G > A],BBS10 [c.145C > T],LZTFL1[c.384G > A]) are detected for all the seven individuals included in the study. The most common clinical finding is polydactyly followed by renal anomalies. The clinical features not previously described are correlated to the unreported variant. Conclusions In this study, exome sequencing findings are discussed and four previously unreported disease-associated variants are described including the fifth BBS-implicatedLZTFL1change and possible genotype-phenotype correlation is described.