Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome

Sanjiban Chakrabarty, Swheta B. Savantre, C. Ramachandra Bhat, Kapaettu Satyamoorthy

Research output: Contribution to journalArticle

Abstract

Bardet–Biedl syndrome (BBS) is a clinically and genetically heterogeneous ciliopathy with several clinical features including retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioral dysfunction and hypogonadism with wide spectrum of additional features. With multiple phenotypes and heterogeneous distribution, it is unlikely that BBS is caused by single gene defect. We have performed clinical and genetic diagnosis of two individuals from an Indian family with classical BBS symptoms. Whole exome sequencing identified homozygous missense mutation in BBS10 gene, hemizygous missense AR and homozygous missense PDE6B mutations in the proband and affected sibling with BBS. Identification of BBS10 mutation along with AR and PDE6B gene mutation will expand the genetic and phenotypic spectrum in individuals with BBS.

Original languageEnglish
Article number144164
JournalGene
DOIs
Publication statusAccepted/In press - 01-01-2019

Fingerprint

Bardet-Biedl Syndrome
Phenotype
Mutation
Missense Mutation
Exome
Inborn Genetic Diseases
Retinitis Pigmentosa
Hypogonadism
Genes
Obesity
Kidney

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

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abstract = "Bardet–Biedl syndrome (BBS) is a clinically and genetically heterogeneous ciliopathy with several clinical features including retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioral dysfunction and hypogonadism with wide spectrum of additional features. With multiple phenotypes and heterogeneous distribution, it is unlikely that BBS is caused by single gene defect. We have performed clinical and genetic diagnosis of two individuals from an Indian family with classical BBS symptoms. Whole exome sequencing identified homozygous missense mutation in BBS10 gene, hemizygous missense AR and homozygous missense PDE6B mutations in the proband and affected sibling with BBS. Identification of BBS10 mutation along with AR and PDE6B gene mutation will expand the genetic and phenotypic spectrum in individuals with BBS.",
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Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome. / Chakrabarty, Sanjiban; Savantre, Swheta B.; Ramachandra Bhat, C.; Satyamoorthy, Kapaettu.

In: Gene, 01.01.2019.

Research output: Contribution to journalArticle

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