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Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family

Venkatesh, CP and Pillai, VS and Raghunath, A and Prakash, VS and Vathsala, R and Kumar, A and Pericak-Vance, Margaret A (2002) Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. In: Molecular Vision, 8 . pp. 294-297.

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Abstract

Purpose: To describe the clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles (CFEOM) in an Indian family. Methods: Individuals were examined and their peripheral blood samples were withdrawn for genetic analysis. The disorder was tested for linkage to two known autosomal dominant CFEOM loci on chromosome 12p11.2-q12 (CFEOM1) and chromosome 16q24 (CFEOM3) using microsatellite markers. Results: Nine individuals including seven affecteds participated in the study. All seven affecteds had a classic form of CFEOM which included congenital bilateral ptosis, hypotropia, and chin elevation. The disorder segregated as an autosomal dominant trait in this family. The maximum simulated lod score in this family was 2.02. Linkage to CFEOM3 was excluded (Z<-2.00), whereas analysis of chromosome 12 markers was positive. The maximum observed two-point lod score was 1.8 (given the size and structure of the family) at theta=0 with marker D12S345. Markers D12S61, D12S1631,D12S87, D12S345, D12S59, D12S1048, and D12S1668 cosegregated with the disease locus in all affecteds. Haplotype analysis showed that the candidate region spanned the centromere. Conclusions: The present data showed a classic CFEOM phenotype in an Indian family. The family’s phenotype is consistent with linkage to CFEOM1 locus on chromosome 12p11.2-q12.

Item Type: Journal Article
Additional Information: The copyright belongs to Molecular Vision
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics (formed by the merger of DBGL and CRBME)
Date Deposited: 25 Aug 2008
Last Modified: 19 Sep 2010 04:17
URI: http://eprints.iisc.ernet.in/id/eprint/2361

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