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. 2002 Aug;134(2):172-6.
doi: 10.1016/s0002-9394(02)01401-0.

Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, and Stromal Thinning (Edict) Syndrome Maps to Chromosome 15q22.1-q25.3

Affiliations

Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, and Stromal Thinning (Edict) Syndrome Maps to Chromosome 15q22.1-q25.3

Albert S Jun et al. Am J Ophthalmol. .

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.

Comment in

  • Misspelling of Peters anomaly.
    Cruysberg JR. Cruysberg JR. Am J Ophthalmol. 2003 Feb;135(2):260; author reply 261. doi: 10.1016/s0002-9394(02)01951-7. Am J Ophthalmol. 2003. PMID: 12566051 No abstract available.

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