title: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
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 for 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.
authors: Department of Pediatrics and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA.
authors: D Y
authors: DY
authors: Nishimura
authors: C C
authors: CC
authors: Searby
authors: R
authors: R
authors: Carmi
authors: K
authors: K
authors: Elbedour
authors: L
authors: L
authors: Van Maldergem
authors: A B
authors: AB
authors: Fulton
authors: B L
authors: BL
authors: Lam
authors: B R
authors: BR
authors: Powell
authors: R E
authors: RE
authors: Swiderski
authors: K E
authors: KE
authors: Bugge
authors: N B
authors: NB
authors: Haider
authors: A E
authors: AE
authors: Kwitek-Black
authors: L
authors: L
authors: Ying
authors: D M
authors: DM
authors: Duhl
authors: S W
authors: SW
authors: Gorman
authors: E
authors: E
authors: Heon
authors: A
authors: A
authors: Iannaccone
authors: D
authors: D
authors: Bonneau
authors: L G
authors: LG
authors: Biesecker
authors: S G
authors: SG
authors: Jacobson
authors: E M
authors: EM
authors: Stone
authors: V C
authors: VC
authors: Sheffield
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D003001:Cloning, Molecular; D017124:Conserved Sequence; D019143:Evolution, Molecular; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D051381:Rats
chemical_list: C528012:Bbs2 protein, mouse; D011506:Proteins