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 blindness1,2. 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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Acknowledgements
We gratefully acknowledge the participation of all HJMD family members in our study. We thank I. Minkov, N. Resnick and D. Kornitzer for assistance and helpful discussions.
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Sprecher, E., Bergman, R., Richard, G. et al. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat Genet 29, 134–136 (2001). https://doi.org/10.1038/ng716
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DOI: https://doi.org/10.1038/ng716
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