Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3.
نویسندگان
چکیده
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.
منابع مشابه
A single-base substitution in the seed region of miR-184 causes EDICT syndrome.
PURPOSE To investigate the cause of the syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT). METHODS Previously a multigenerational family was reported that comprised 10 individuals affected by syndromal anterior segment dysgenesis. Blood samples were re-collected from eight affected and two unaffected individuals, and genomic DN...
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m-miR-184 (mutant miR-184, r.57c > u) appears in familial hereditary ocular diseases, including keratoconus, cataracts, EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning) syndrome, severe keratoconus, and non-ectatic corneal thinning. The biological function of m-miR-184 in these ocular diseases remains unclear. With the emergence of high-throughput sequen...
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We were very interested to read of a second mutation in the seed region of miR-184 resulting in EDICT syndrome. We were unsure after reading the paper, however, of how the corneal findings should be classified and of the statement that the family “does not demonstrate a keratoconus phenotype.” Keratoconus, the commonest disorder of corneal thinning and steepening, has been linked with VSX1 and ...
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PURPOSE A mutation miR-184(+57C>T) in the seed region of miR-184 (encoded by MIR184 [MIM*613146]) results in familial severe keratoconus combined with early-onset anterior polar cataract and endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MIM#614303). In order to investigate the phenotypic spectrum resulting from MIR184 mutation, MIR184 was se...
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عنوان ژورنال:
- American journal of ophthalmology
دوره 134 2 شماره
صفحات -
تاریخ انتشار 2002