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

Albert S. Jun, Karl W. Broman, Diana V. Do, Esen K. Akpek, Walter J. Stark, John D. Gottsch

Research output: Contribution to journalArticle

12 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)172-176
Number of pages5
JournalAmerican journal of ophthalmology
Volume134
Issue number2
DOIs
StatePublished - Aug 12 2002

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Iris
Cataract
Chromosomes
Genes
Corneal Stroma
Chromosomes, Human, Pair 15
Corneal Endothelium
Microsatellite Repeats
Lenses

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome maps to chromosome 15q22.1-q25.3. / Jun, Albert S.; Broman, Karl W.; Do, Diana V.; Akpek, Esen K.; Stark, Walter J.; Gottsch, John D.

In: American journal of ophthalmology, Vol. 134, No. 2, 12.08.2002, p. 172-176.

Research output: Contribution to journalArticle

Jun, Albert S. ; Broman, Karl W. ; Do, Diana V. ; Akpek, Esen K. ; Stark, Walter J. ; Gottsch, John D. / Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome maps to chromosome 15q22.1-q25.3. In: American journal of ophthalmology. 2002 ; Vol. 134, No. 2. pp. 172-176.
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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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AU - Akpek, Esen K.

AU - Stark, Walter J.

AU - Gottsch, John D.

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