American journal of ophthalmology · 2002
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Jun Albert S, Broman Karl W, Do Diana V, Akpek Esen K, Stark Walter J, Gottsch John D
Аннотация
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.
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.