title: Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.
abstract: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinitis pigmentosa, mental retardation, and kidney abnormalities. At least 19 genes have been shown to be associated with BBS, and therefore, genetic testing is highly complicated. We used an Illumina MiSeq platform for whole exome sequencing analysis of a family with strong clinical features of BBS. A homozygous c.1967_1968delTAinsC (p.Leu656fsX673; RefSeq NM_176824.2) mutation in BBS7 was identified in both affected children, while their healthy sibling and the non-consanguineous parents were heterozygous for this allele. Genotyping of 2,832 DNA samples obtained from Russian blood donors revealed 2 additional heterozygous subjects (0.07%) with the c.1967_1968delTAinsC mutation. These findings may facilitate the genetic diagnosis for Slavic BBS patients.
authors.affiliation: N.N. Petrov Institute of Oncology, St. Petersburg, Russia ; St. Petersburg Pediatric Medical University, St. Petersburg, Russia.
authors.forename: Evgeny N
authors.initials: EN
authors.lastname: Suspitsin
authors.affiliation: N.N. Petrov Institute of Oncology, St. Petersburg, Russia ; St. Petersburg Pediatric Medical University, St. Petersburg, Russia.
authors.forename: Anna P
authors.initials: AP
authors.lastname: Sokolenko
authors.affiliation: St. Petersburg Pediatric Medical University, St. Petersburg, Russia ; City Medical Genetic Center, St. Petersburg, Russia.
authors.forename: Lydia V
authors.initials: LV
authors.lastname: Lyazina
authors.affiliation: N.N. Petrov Institute of Oncology, St. Petersburg, Russia.
authors.forename: Elena V
authors.initials: EV
authors.lastname: Preobrazhenskaya
authors.affiliation: St. Petersburg Pediatric Medical University, St. Petersburg, Russia.
authors.forename: Alla Y
authors.initials: AY
authors.lastname: Lepenchuk
authors.affiliation: N.N. Petrov Institute of Oncology, St. Petersburg, Russia ; St. Petersburg Pediatric Medical University, St. Petersburg, Russia ; I.I. Mechnikov North-Western Medical University, St. Petersburg, Russia.
authors.forename: Evgeny N
authors.initials: EN
authors.lastname: Imyanitov
keywords: BBS7 gene; Bardet-Biedl syndrome; Ciliopathy; Exome sequencing; Founder alleles