Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous

Mark Leppert, Lisa Baird, Kent L. Anderson, Brith Otterud, James R. Lupski, Richard Alan Lewis

Research output: Contribution to journalArticle

162 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)108-112
Number of pages5
JournalNature Genetics
Volume7
Issue number1
DOIs
StatePublished - May 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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