Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital hea...

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Veröffentlicht in:Nature genetics 2001-06, Vol.28 (2), p.188-191
Hauptverfasser: Mykytyn, Kirk, Gorman, Susan W, Carmi, Rivka, Stone, Edwin M, Wright, Alan F, Searby, Charles C, Duhl, David M, Casavant, Thomas, Beck, Gretel, Jacobson, Samuel G, Braun, Terry, Haider, Neena B, Raas-Rothschild, Annick, Riise, Ruth, Sheffield, Val C, Iannaccone, Alessandro, Shastri, Mythreyi, Elbedour, Khalil, Baldi, Alfonso
Format: Artikel
Sprache:eng
Schlagworte:
Bardet-Biedl syndrome
Bardet-Biedl Syndrome - genetics
BBS4 gene
Biological and medical sciences
Cardiovascular diseases
Causes of
chromosome 11
chromosome 15
chromosome 16
chromosome 2
chromosome 20
chromosome 3
Classical genetics, quantitative genetics, hybrids
Cloning
Cloning, Molecular
Complex syndromes
Consanguinity
Expressed Sequence Tags
Fundamental and applied biological sciences. Psychology
Gene mutations
Genes
Genetic aspects
Genetics of eukaryotes. Biological and molecular evolution
Health aspects
Human
Humans
Hypertension
Identification and classification
McKusick-Kaufman syndrome
Medical genetics
Medical sciences
MKKS gene
Molecular Sequence Data
Mutation
Obesity
Obesity - genetics
Proteins - genetics
Thermoplasma acidophilum
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Zusammenfassung:Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although BBS is rare in the general population (
ISSN:1061-4036
1546-1718
DOI:10.1038/88925