title: Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
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.
authors.affiliation: Department of Dermatology, Rambam Medical Center, Haifa 31096, Israel. e_sprecher@rambam.health.gov.il
authors.forename: E
authors.initials: E
authors.lastname: Sprecher
authors.forename: R
authors.initials: R
authors.lastname: Bergman
authors.forename: G
authors.initials: G
authors.lastname: Richard
authors.forename: R
authors.initials: R
authors.lastname: Lurie
authors.forename: S
authors.initials: S
authors.lastname: Shalev
authors.forename: D
authors.initials: D
authors.lastname: Petronius
authors.forename: A
authors.initials: A
authors.lastname: Shalata
authors.forename: Y
authors.initials: Y
authors.lastname: Anbinder
authors.forename: R
authors.initials: R
authors.lastname: Leibu
authors.forename: I
authors.initials: I
authors.lastname: Perlman
authors.forename: N
authors.initials: N
authors.lastname: Cohen
authors.forename: R
authors.initials: R
authors.lastname: Szargel
mesh_terms: D000293:Adolescent; D015820:Cadherins / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D003317:Corneal Dystrophies, Hereditary / Q000150:complications / Q000235:genetics*; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D007039:Hypotrichosis / Q000150:complications / Q000235:genetics*; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D015820:Cadherins; D005819:Genetic Markers