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Suspitsin EN, Sokolenko AP, Lyazina LV, et al. Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. Mol Syndromol. 2015;6(2):96-8doi: 10.1159/000371408.
Suspitsin, E. N., Sokolenko, A. P., Lyazina, L. V., Preobrazhenskaya, E. V., Lepenchuk, A. Y., & Imyanitov, E. N. (2015). Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. Molecular syndromology, 6(2), 96-8. https://doi.org/10.1159/000371408
Suspitsin, Evgeny N, et al. "Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7." Molecular syndromology vol. 6,2 (2015): 96-8. doi: https://doi.org/10.1159/000371408
Suspitsin EN, Sokolenko AP, Lyazina LV, Preobrazhenskaya EV, Lepenchuk AY, Imyanitov EN. Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. Mol Syndromol. 2015 Jul;6(2):96-8. doi: 10.1159/000371408. Epub 2015 Jan 24. PMID: 26557828; PMCID: PMC4574611.
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Mol Syndromol. 2015 Jul;6(2):96-8. doi: 10.1159/000371408. Epub 2015 Jan 24.

Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.

Molecular syndromology

Evgeny N Suspitsin, Anna P Sokolenko, Lydia V Lyazina, Elena V Preobrazhenskaya, Alla Y Lepenchuk, Evgeny N Imyanitov

Affiliations

  1. N.N. Petrov Institute of Oncology, St. Petersburg, Russia ; St. Petersburg Pediatric Medical University, St. Petersburg, Russia.
  2. St. Petersburg Pediatric Medical University, St. Petersburg, Russia ; City Medical Genetic Center, St. Petersburg, Russia.
  3. N.N. Petrov Institute of Oncology, St. Petersburg, Russia.
  4. St. Petersburg Pediatric Medical University, St. Petersburg, Russia.
  5. 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.

PMID: 26557828 PMCID: PMC4574611 DOI: 10.1159/000371408

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.

Keywords: BBS7 gene; Bardet-Biedl syndrome; Ciliopathy; Exome sequencing; Founder alleles

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