Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Document Type
Article
Publication Date
2001
Keywords
Animal, Bardet-Biedl-Syndrome, Chromosome-Mapping, Chromosomes-Human-Pair-16, Cloning-Molecular, Conserved-Sequence, Evolution-Molecular, Female, Genetic-Screening, Human, Male, Mice, Molecular-Sequence-Data, Mutation, Pedigree, Rats, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S
First Page
865
Last Page
874
JAX Source
Hum Mol Genet 2001 Apr; 10(8):865-74.
Grant
R01-EY-11298/EY/NEI
Abstract
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed fider or the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.
Recommended Citation
Nishimura DY,
Searby CC,
Haider NB,
Heon E,
Iannaccone A,
Bonneau D,
Biesecker LG,
Jacobson SG,
Stone EM,
et a.
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 2001 Apr; 10(8):865-74.