Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

Eli Sprecher, Reuven Bergman, Gabriele Richard, Raziel Lurie, Stavit Shalev, Dan Petronius, Adel Shalata, Yefim Anbinder, Rina Leibu, Ido Perlman, Nadine Cohen, Raymonde Szargel

Research output: Contribution to journalArticlepeer-review

150 Scopus citations


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 languageEnglish
Pages (from-to)134-136
Number of pages3
JournalNature Genetics
Issue number2
StatePublished - 2001
Externally publishedYes

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.


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