A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3

Hugh Watkins*, Calum Macrae, Ludwig Thierfelder, Yah Huei Chou, Michael Frenneaux, William McKenna, J. G. Seidman, Christine E. Seidman

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

164 Scopus citations

Abstract

Familial hypertrophic cardiomyopathy (FHC) is caused by missense mutations in the β cardiac myosin heavy chain (MHC) gene in less than half of affected individuals. To identify the location of another gene involved in this disorder, a large family with FHC not linked to the β MHC gene was studied. Linkage was detected between the disease in this family and a locus on chromosome 1q3 (maximum multipoint lod score = 8.47). Analyses in other families with FHC not linked to the β MHC gene, revealed linkage to the chromosome 1 locus in two and excluded linkage in six. Thus mutations in at least three genetic loci can cause FHC. Three sarcomeric contractile proteins — troponin I, tropomyosin and actin — are strong candidate FHC genes at the chromosome 1 locus.

Original languageEnglish
Pages (from-to)333-337
Number of pages5
JournalNature Genetics
Volume3
Issue number4
DOIs
StatePublished - 04 1993
Externally publishedYes

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