Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci

R Carmi; K Elbedour; E M Stone; V C Sheffield

doi:10.1002/ajmg.1320590216

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Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci

Journal article

Peer reviewed

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci

R Carmi, K Elbedour, E M Stone and V C Sheffield

American journal of medical genetics, Vol.59(2), pp.199-203

11/06/1995

DOI: 10.1002/ajmg.1320590216

PMID: 8588586

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Abstract

Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and cardiac abnormalities are also frequent in this disorder. Previous clinical suggestions of heterogeneity of BBS were confirmed recently by the identification of four different chromosome loci linked to the disease. In this study we compared clinical manifestations of the syndrome in patients from 3 unrelated, extended Arab-Bedouin kindreds which were used for the linkage mapping of the BBS loci to chromosomes 3, 15, and 16. The observed differences included the limb distribution of the postaxial polydactyly and the extent and age-association of obesity. It appears that the chromosome 3 locus is associated with polydactyly of all four limbs, while polydactyly of the chromosome 15 type is mostly confined to the hands. On the other hand, the chromosome 15 type is associated with early-onset morbid obesity, while the chromosome 16 type appears to present the "leanest" form of BBS. Future cloning of the various BB genes will contribute to the understanding of the molecular basis of limb development and to the identification of human obesity-related genes.

Polydactyly - genetics

Genitalia - abnormalities

Retinal Degeneration - genetics

Humans

Arabs

Child, Preschool

Infant

Male

Chromosomes, Human, Pair 15 - genetics

Obesity - genetics

Syndrome

Intellectual Disability - genetics

Phenotype

Adolescent

Adult

Female

Child

Chromosomes, Human, Pair 3 - genetics

Chromosomes, Human, Pair 16 - genetics

Genetic Linkage

Details

Title: Subtitle: Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci
Creators: R Carmi - Clinical Genetics Unit, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel
K Elbedour
E M Stone
V C Sheffield
Resource Type: Journal article
Publication Details: American journal of medical genetics, Vol.59(2), pp.199-203
DOI: 10.1002/ajmg.1320590216
PMID: 8588586
NLM abbreviation: Am J Med Genet
ISSN: 0148-7299
eISSN: 1096-8628
Publisher: Wiley; United States
Language: English
Date published: 11/06/1995
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980070502771

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