Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Nishimura, DY; Searby, CC; Carmi, R; Elbedour, K; Van Maldergem, L; Fulton, AB; Lam, BL; Powell, BR; Swiderski, RE; Bugge, KE; Haider, NB; Kwitek-Black, AE; Ying, L; Duhl, DM; Gorman, SW; Heon, E; Iannaccone, A; Bonneau, D; Biesecker, LG; Jacobson, SG; Stone, EM; Sheffield, VC

Published Date

  • April 1, 2001

Published In

Volume / Issue

  • 10 / 8

Start / End Page

  • 865 - 874

PubMed ID

  • 11285252

International Standard Serial Number (ISSN)

  • 0964-6906

Digital Object Identifier (DOI)

  • 10.1093/hmg/10.8.865


  • eng

Conference Location

  • England