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Article

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Human mutation - 1 Apr 2010

Hjortshøj Tina Duelund, Grønskov Karen, Philp Alisdair R, Nishimura Darryl Y, Riise Ruth, Sheffield Val C, Rosenberg Thomas, Brøndum-Nielsen Karen

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, polydactyly, obesity, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous with mutations of 14 genes, accounting for approximately 70% of cases. Triallelic inheritance has been suggested in about 5% of cases. Forty-nine unrelated BBS patients were screened for mutations...

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Source

Identifiers

PMID: 20120035
DOI: 10.1002/humu.21204

Genes

BBS1
BBS10
BBS2
BBS12
MKKS
BBS4
BBS9

Variants

Provenance

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Related research

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Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.PMID 20120035Read ↗

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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.Semantic proximity Read ↗

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.Semantic proximity Read ↗

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.Semantic proximity Read ↗

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.Semantic proximity Read ↗

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