Human Molecular Genetics, 2001, Vol. 10, No. 8 865-874
© 2001 Oxford University Press
Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)
1Department of Pediatrics and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA, 2Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel, 3Centre de Genetique Humaine, Institute de Pathologie et de Genetique, Loverval, Belgium, 4Department of Ophthalmology, Children’s Hospital and Harvard Medical School, Boston, MA, USA, 5Bascom Palmer Eye Institute, Miami, FL 33136, USA, 6Valley Children’s Hospital, Madera, CA 93638, USA, 7The Jackson Laboratory, Bar Harbor, ME 04609, USA, 8Medical College of Wisconsin, Milwaukee, WI 53226, USA, 9Chiron Corporation, Emeryville, CA 94608, USA, 10Vision Science Research Program, Toronto Western Research Institute, Toronto, Canada, 11Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38103, USA, 12Department of Medical Genetics, University of Poitiers, Poitiers, France, 13National Human Genome Research Institute, The National Institutes of Health, Bethesda, MD 20892, USA, 14Scheie Eye Institute, Philadelphia, PA 19104, USA, 15Department of Ophthalmology, University of Iowa, Iowa City, IA 52242, USA
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.
+ To whom correspondence should be addressed. Tel: +1 319 335 6898; Fax: +1 319 335 7588; Email: val-sheffield@uiowa.edu
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