Nature Genetics
7, 108 - 112 (1994)
doi:10.1038/ng0594-108
Bardet−Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneousMark Leppert1, 6, Lisa Baird1, Kent L. Anderson2, Brith Otterud1, James R. Lupski2, 3, 5
& Richard Alan Lewis2, 4, 5
1Howard Hughes Medical Institute and the Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA
2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA
3The Human Genome Center, Baylor College of Medicine, Houston, Texas, 77030, USA
4The Cullen Eye Institute, and the Departments of Ophthalmology, Medicine, Baylor College of Medicine, Houston, Texas, 77030, USA
5Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA
6Correspondence should be addressed to M.L. Bardet−Biedl syndrome (BBS) is an uncommon autosomal recessive condition characterized by mental retardation, post−axial polydactylia, obesity and pigmentary retinopathy. We performed linkage analysis in 31 multiplex BBS families and report significant linkage with two markers on chromosome 11 q, PYGM and AFM164zf12 (D11S913). Homogeneity testing demonstrates genetic heterogeneity within our set of families. Our data imply that a major gene, BBS1, is located on chromosome 11q, although mutations at other loci may also be associated with this phenotype.
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