Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: Clinical and genetic implications

Shrawan Kumar, Karen Deffenbacher, Henri A.M. Marres, Cor W.R.J. Cremers, William J. Kimberling

Research output: Contribution to journalArticlepeer-review

50 Scopus citations

Abstract

Branchio-oto-renal (BOR) syndrome is characterized by ear malformations, cervical fistulas, hearing loss, and renal anomalies. It is an autosomal dominant disorder with variable clinical manifestations. The most common features of BOR syndrome are branchial, hearing, and renal anomalies. However, many affected subjects have been observed with branchial-cleft anomalies and hearing loss but without renal anomalies, a condition called 'branchio-otic' (BO) syndrome. It is logical to question whether the BOR and BO syndromes are allelic or whether they represent distinct genetic entities. We identified a very large extended family whose members had branchial and hearing anomalies associated with commissural lip pits that segregated in an autosomal dominant fashion. Using a genomewide search strategy, we identified genetic linkage, with a maximum LOD score of 4.81 at recombination fraction 0, between the BO phenotype and polymorphic marker D1S2757 in the genetic region of chromosome 1q31. This is the first report of linkage for a second gene associated with BOR syndrome. The findings have important clinical implications and will provide insight into the genetic basis of BOR syndrome.

Original languageEnglish (US)
Pages (from-to)1715-1720
Number of pages6
JournalAmerican Journal of Human Genetics
Volume66
Issue number5
DOIs
StatePublished - 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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