Document Detail


Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.
MedLine Citation:
PMID:  9714014     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
There are at least five distinct Bardet-Biedl syndrome (BBS) loci, four of which have been mapped: 11q (BBS1), 16q (BBS2), 3p (BBS3), and 15q (BBS4). A comparative study of the three Arab-Bedouin kindreds used to map the BBS2, BBS3, and BBS4 loci suggests that the variability in the number and severity of clinical manifestations, particularly the pattern of polydactyly, reflects chromosome-specific subtypes of BBS [Carmi et al., 1995a; Am J Med Genet 59:199-203]. We describe a Newfoundland kindred of northern European descent and confirm the initial finding of a BBS locus on chromosome 3. However, the "BBS3 phenotype," which includes polydactyly of all four limbs and a progression to morbid obesity, was not observed. Rather, four of the five BBS patients in this family had polydactyly restricted to their feet. The obesity in these patients was reversible with caloric restriction and/or exercise. Mental retardation has been considered a major symptom of BBS. However, formal IQ testing shows that these patients are of average intelligence. Haplotype analysis reduces the BBS3 critical region to a 6-cM interval between D3S1595-D3S1753.
Authors:
T L Young; M O Woods; P S Parfrey; J S Green; E O'Leary; D Hefferton; W S Davidson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  78     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Aug 
Date Detail:
Created Date:  1998-10-26     Completed Date:  1998-10-26     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  461-7     Citation Subset:  IM    
Affiliation:
Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada. tlyoung@morgan.ucs.mun.ca
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MeSH Terms
Descriptor/Qualifier:
Adult
Blindness / congenital
Chromosome Mapping
Chromosomes, Human, Pair 3*
Female
Fingers / abnormalities
Haplotypes*
Humans
Intelligence Tests
Kidney / abnormalities
Linkage (Genetics)*
Male
Mental Retardation / genetics
Middle Aged
Newfoundland and Labrador
Obesity / genetics
Pedigree
Phenotype
Polydactyly / genetics*
Retinitis Pigmentosa / genetics
Syndrome
Toes / abnormalities*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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