PUBLICATION
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
- Authors
- Nishimura, D.Y., Searby, C.C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A.B., Lam, B.L., Powell, B.R., Swiderski, R.E., Bugge, K.E., Haider, N.B., Kwitek-Black, A.E., Ying, L., Duhl, D.M., Gorman, S.W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L.G., Jacobson, S.G., Stone, E.M., and Sheffield, V.C.
- ID
- ZDB-PUB-020806-2
- Date
- 2001
- Source
- Human molecular genetics 10(8): 865-874 (Journal)
- Registered Authors
- Keywords
- none
- MeSH Terms
-
- Amino Acid Sequence
- Animals
- Bardet-Biedl Syndrome/genetics*
- Chromosome Mapping
- Chromosomes, Human, Pair 16*
- Cloning, Molecular
- Conserved Sequence*
- Evolution, Molecular
- Female
- Genetic Testing
- Humans
- Male
- Mice
- Molecular Sequence Data
- Mutation
- Pedigree
- Proteins/genetics
- Rats
- PubMed
- 11285252 Full text @ Hum. Mol. Genet.
Citation
Nishimura, D.Y., Searby, C.C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A.B., Lam, B.L., Powell, B.R., Swiderski, R.E., Bugge, K.E., Haider, N.B., Kwitek-Black, A.E., Ying, L., Duhl, D.M., Gorman, S.W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L.G., Jacobson, S.G., Stone, E.M., and Sheffield, V.C. (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Human molecular genetics. 10(8):865-874.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping