Literature DB >> 7702084

Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome.

J B Croft1, D Morrell, C L Chase, M Swift.   

Abstract

Obesity and renal failure are common manifestations in the autosomal recessive Bardet-Biedl (BB) syndrome. Because obesity and hypertension have been reported frequently in non-homozygous relatives of BB patients, we hypothesized that BB heterozygotes are predisposed to these conditions. Clinical information was collected from 34 patients of BB homozygotes, who are obligate heterozygotes. The proportion of severely overweight fathers (26.7%) was significantly higher than that in comparably aged United States white males (8.9%). We conclude that the BB gene may predispose male heterozygous carriers to obesity. If BB heterozygotes are 1% of the general population, we estimate that approximately 2.9% of all severely overweight white males carry a single BB gene. The BB parents of both sexes were also significantly taller than U.S. white men and women of comparable age.

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Mesh:

Year:  1995        PMID: 7702084     DOI: 10.1002/ajmg.1320550105

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  21 in total

Review 1.  Molecular basis of the obesity associated with Bardet-Biedl syndrome.

Authors:  Deng-Fu Guo; Kamal Rahmouni
Journal:  Trends Endocrinol Metab       Date:  2011-04-21       Impact factor: 12.015

2.  Bardet-Biedl syndrome.

Authors:  Elizabeth Forsythe; Philip L Beales
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

3.  Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

Authors:  Norann A Zaghloul; Yangjian Liu; Jantje M Gerdes; Cecilia Gascue; Edwin C Oh; Carmen C Leitch; Yana Bromberg; Jonathan Binkley; Rudolph L Leibel; Arend Sidow; Jose L Badano; Nicholas Katsanis
Journal:  Proc Natl Acad Sci U S A       Date:  2010-05-24       Impact factor: 11.205

4.  A locus on mouse Chromosome 9 (Adip5) affects the relative weight of the gonadal but not retroperitoneal adipose depot.

Authors:  Amanda H McDaniel; Xia Li; Michael G Tordoff; Alexander A Bachmanov; Danielle R Reed
Journal:  Mamm Genome       Date:  2006-11-10       Impact factor: 2.957

5.  Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

Authors:  P L Beales; A M Warner; G A Hitman; R Thakker; F A Flinter
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

6.  BBS4 directly affects proliferation and differentiation of adipocytes.

Authors:  Olga Aksanov; Pnina Green; Ruth Z Birk
Journal:  Cell Mol Life Sci       Date:  2014-02-06       Impact factor: 9.261

7.  Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

Authors:  Zohreh Fattahi; Parvin Rostami; Amin Najmabadi; Marzieh Mohseni; Kimia Kahrizi; Mohammad Reza Akbari; Ariana Kariminejad; Hossein Najmabadi
Journal:  J Hum Genet       Date:  2014-05-22       Impact factor: 3.172

8.  New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Authors:  P L Beales; N Elcioglu; A S Woolf; D Parker; F A Flinter
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

Review 9.  The neuropathology of obesity: insights from human disease.

Authors:  Edward B Lee; Mark P Mattson
Journal:  Acta Neuropathol       Date:  2013-10-06       Impact factor: 17.088

10.  New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.

Authors:  Ines Pereiro; Diana Valverde; Teresa Piñeiro-Gallego; Montserrat Baiget; Salud Borrego; Carmen Ayuso; Charles Searby; Darryl Nishimura
Journal:  Mol Vis       Date:  2010-02-01       Impact factor: 2.367

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