Abstract
Congenital hypotrichosis associated with juvenile macular dystrophy (HJMD; MIM601553) is an autosomal recessive disorder of unknown etiology, characterized by hair loss heralding progressive macular degeneration and early blindness. We used homozygosity mapping in four consanguineous families to localize the gene defective in HJMD to 16q22.1. This region contains CDH3, encoding P-cadherin, which is expressed in the retinal pigment epithelium and hair follicles. Mutation analysis shows in all families a common homozygous deletion in exon 8 of CDH3. These results establish the molecular etiology of HJMD and implicate for the first time a cadherin molecule in the pathogenesis of a human hair and retinal disorder.
Original language | English |
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Pages (from-to) | 134-136 |
Number of pages | 3 |
Journal | Nature Genetics |
Volume | 29 |
Issue number | 2 |
DOIs | |
State | Published - Oct 2001 |
Externally published | Yes |
Bibliographical note
Funding Information:W.W.C. is a Jane Coffin Childs Memorial Fellow. A.B. was a Howard Hughes Medical Institute Investigator and is also supported by NCI. We thank J. Klysik for critical comments.