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Am J Ophthalmol. 2002 Aug;134(2):172-6.

Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3.

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1
Center for Corneal Genetics, Cornea and External Disease Service, The Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

Abstract

PURPOSE:

To localize a gene causing a newly described autosomal dominant anterior segment dysgenesis characterized by corneal endothelial dystrophy, iris hypoplasia, congenital cataracts, and corneal stromal thinning (EDICT syndrome).

DESIGN:

Experimental study.

METHODS:

A set of microsatellite markers spanning the 22 human autosomes was used to perform linkage analysis on affected and unaffected individuals within a single family.

RESULTS:

Linkage analysis of the anterior segment dysgenesis endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome in this family revealed a logarithm of the odds (LOD) score of 2.71 on chromosome 15q22.1-25.3 between markers D15993 and D15S202. These results suggest a gene for EDICT syndrome lies in this chromosomal region.

CONCLUSIONS:

A LOD score of 2.71 suggests a novel locus associated with the newly described EDICT syndrome lies in a region of chromosome 15 between markers D15S993 and D15S202. Identification of the disease-causing gene in this region may yield insights into a broad range of disorders affecting the corneal stroma, endothelium, iris, and lens.

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PMID:
12140022
[Indexed for MEDLINE]
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