Exome sequencing reveals a novel mutation in BBS2 gene in an Iranian family diagnosed with Bardet-Biedl Syndrome

Rare autosomal recessive Bardet-Biedl Syndrome (BBS) is a kind of pleiotropic ciliopathies which is more common in developing countries. BBS is characterized by symptoms including obesity, retinitis pigmentosa, polydactyly, learning problems, hypogonadism and kidney abnormalities that vary both within and between families. Nineteen disease-causinggenes are involved in 80% of BBS cases and code proteins localized to the cilia which each function affect different parts ofa cilium. BBS2 in contribution with six most conserved BBS genes, form BBSome complex of the cilium.Here, we report an Iranian family with a ciliopathy disorder ascribing BBS. Whole exome sequencing (WES) was performed for proband which revealed a novel homozygote splice mutation c.535-1 G>C in BBS2 gene that would probably lead to skipping of exon 5. Using bioinformatics software, Mutation Taster, predicts c.535-1 G>C as a disease causingvariant. WES data were confirmed by Sanger sequencing and co-segregation was performed for his family.Estimating about 8% of BBS reports, BBS2 is among one of the common genes in BBS (same results in Iranian populationunpublisheddata). This result was in accordance with our expectations. In conclusion, due to the clinical and geneticheterogeneity observed in Bardet-Biedl syndrome WES could be considered as the method of choice for clinical genetics practice

کلیدواژه ها:

Bardet-Biedl syndrome ، BBS2 gene ، whole exome sequencing ، Sanger sequencing ، Iran