Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10

Dominic R A White; Anuradha Ganesh; Darryl Nishimura; Eleanor Rattenberry; Shakeel Ahmed; Ursula M Smith; Shanaz Pasha; Sandy Raeburn; Richard C Trembath; Anna Rajab; Fiona Macdonald; Eyal Banin; Edwin M Stone; Colin A Johnson; Val C Sheffield; Eamonn R Maher

doi:10.1038/sj.ejhg.5201736

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Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10

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Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10

Dominic R A White, Anuradha Ganesh, Darryl Nishimura, Eleanor Rattenberry, Shakeel Ahmed, Ursula M Smith, Shanaz Pasha, Sandy Raeburn, Richard C Trembath, Anna Rajab, …

European journal of human genetics : EJHG, Vol.15(2), pp.173-178

02/2007

DOI: 10.1038/sj.ejhg.5201736

PMID: 17106446

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Abstract

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure. In order to identify novel BBS loci we undertook autozygosity mapping studies using high-density SNP microarrays in consanguineous kindreds. We mapped a BBS locus to a 10.1 Mb region at 12q15-q21.2 in a large Omani BBS family (peak lod score 8.3 at theta = 0.0 for marker D12S1722) that contained the recently described BBS10 locus. Mutation analysis of candidate genes within the target interval, including the BBS10 gene, revealed a homozygous frameshift mutation in FLJ23560 and mutations were also detected in four smaller consanguineous families with regions of autozygosity at 12q21.2. These findings (a) confirm a previous report that FLJ23560 (BBS10) mutations are a significant cause of BBS, and (b) further demonstrate the utility of high-density SNP array mapping in consanguineous families for the mapping and identification of recessive disease genes.

Oman

Oligonucleotide Array Sequence Analysis

Physical Chromosome Mapping

Humans

Child, Preschool

Male

Group II Chaperonins

Genes, Recessive

Homozygote

DNA Mutational Analysis

Pedigree

Adult

Bardet-Biedl Syndrome - genetics

Female

Consanguinity

Polymorphism, Single Nucleotide

Chaperonins - genetics

Child

Chromosomes, Human, Pair 12 - genetics

Details

Title: Subtitle: Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10
Creators: Dominic R A White - Department of Medical and Molecular Genetics, School of Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
Anuradha Ganesh
Darryl Nishimura
Eleanor Rattenberry
Shakeel Ahmed - Sultan Qaboos University Hospital
Ursula M Smith
Shanaz Pasha
Sandy Raeburn
Richard C Trembath
Anna Rajab
Fiona Macdonald
Eyal Banin
Edwin M Stone
Colin A Johnson
Val C Sheffield
Eamonn R Maher
Resource Type: Journal article
Publication Details: European journal of human genetics : EJHG, Vol.15(2), pp.173-178
DOI: 10.1038/sj.ejhg.5201736
PMID: 17106446
NLM abbreviation: Eur J Hum Genet
ISSN: 1018-4813
eISSN: 1476-5438
Publisher: England
Grant note: R01-EY11298 / NEI NIH HHS Wellcome Trust
Language: English
Date published: 02/2007
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980079602771

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