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


METHODS
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.
Center for Corneal Genetics, Cornea and External Disease Service, The Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Albert S
AS
Jun
Karl W
KW
Broman
Diana V
DV
Do
Esen K
EK
Akpek
Walter J
WJ
Stark
John D
JD
Gottsch
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000869:Anterior Eye Segment / Q000002:abnormalities*; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000473:pathology; D003319:Corneal Stroma / Q000473:pathology; D004728:Endothelium, Corneal / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D013577:Syndrome