Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome

Elise Héon; Carol Westall; Rivka Carmi; Khalil Elbedour; Carole Panton; Leslie Mackeen; Edwin M Stone; Val C Sheffield

doi:10.1002/ajmg.a.30466

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Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome

Journal article

Peer reviewed

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome

Elise Héon, Carol Westall, Rivka Carmi, Khalil Elbedour, Carole Panton, Leslie Mackeen, Edwin M Stone and Val C Sheffield

American journal of medical genetics. Part A, Vol.132A(3), pp.283-287

01/30/2005

DOI: 10.1002/ajmg.a.30466

PMID: 15690372

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Abstract

Bardet-Biedl syndrome is a genetically heterogeneous multisystem disorder that causes severe visual impairment. Retinitis pigmentosa (RP), hypogonadism, digit and renal anomalies, obesity, and a variable degree of mental retardation characterize the disorder. Eight different loci have been identified on 2q31(BBS5), 3p13 (BBS3), 4q27 (BBS7), 11q13 (BBS1), 14q32 (BBS8), 15q22.3 (BBS4), 16q21 (BBS2), and 20p12 (BBS6). The ocular manifestations of Bardet-Biedl syndrome include an early and severe rod-cone dystrophy causing legal blindness in the second decade. Features of systemic phenotypic variability were proposed to distinguish patients mapped to either the BBS2, BBS3, or BBS4 loci but no phenotype-genotype correlation has been established for the ocular phenotype. We studied the three original families used for the identification of BBS2, BBS3, and BBS4 loci to define the ocular phenotypes of patients (n = 34) and obligate carriers (n = 32) using clinical examination and electroretinography (ERG). RP was severe and early in all cases. Myopia was associated with BBS3 and BBS4, but not BBS2. One patient with Bardet-Biedl syndrome also had iris and chorioretinal colobomata, features suggestive of Biemond syndrome.

Eye - metabolism

Multigene Family - genetics

Eye - pathology

Humans

Child, Preschool

Microtubule-Associated Proteins

Family Health

Male

Genetic Variation

Proteins - genetics

Phenotype

Bardet-Biedl Syndrome - pathology

Adolescent

Adult

Bardet-Biedl Syndrome - genetics

Female

Heterozygote

Mutation

Child

Details

Title: Subtitle: Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome
Creators: Elise Héon - Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. eheon@attglobal.net
Carol Westall
Rivka Carmi
Khalil Elbedour
Carole Panton
Leslie Mackeen
Edwin M Stone
Val C Sheffield
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.132A(3), pp.283-287
DOI: 10.1002/ajmg.a.30466
PMID: 15690372
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: United States
Grant note: EY11298 / NEI NIH HHS
Language: English
Date published: 01/30/2005
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979972302771

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