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

doi:10.1038/ng716

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

Medicine

Research output: Contribution to journal › Article › peer-review

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
Pages (from-to)	134-136
Number of pages	3
Journal	Nature Genetics
Volume	29
Issue number	2
DOIs	https://doi.org/10.1038/ng716
State	Published - 2001

ASJC Scopus subject areas

Genetics

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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.",

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

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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doi = "10.1038/ng716",

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T1 - Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

AU - Sprecher, Eli

AU - Bergman, Reuven

AU - Richard, Gabriele

AU - Lurie, Raziel

AU - Shalev, Stavit

AU - Petronius, Dan

AU - Shalata, Adel

AU - Anbinder, Yefim

AU - Leibu, Rina

AU - Perlman, Ido

AU - Cohen, Nadine

AU - Szargel, Raymonde

N1 - 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.

PY - 2001

Y1 - 2001

N2 - 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.

AB - 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.

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JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -

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

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