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.
Jun
Albert S
AS
Center for Corneal Genetics, Cornea and External Disease Service, The Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Broman
Karl W
KW
Do
Diana V
DV
Akpek
Esen K
EK
Stark
Walter J
WJ
Gottsch
John D
JD
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