Journal
DERMATOLOGY
Volume 220, Issue 3, Pages 208-212Publisher
KARGER
DOI: 10.1159/000275673
Keywords
Hypotrichosis; Macular dystrophy; Ectrodactyly; P-cadherin
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Funding
- Dermatology Foundation
- USPHS, NIH/NIAMS [RO1 AR44924]
- NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [R01AR044924] Funding Source: NIH RePORTER
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Background: Hypotrichosis with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by hypotrichosis with short scalp hair and progressive macular dystrophy leading to blindness between the second and the fourth decades of life. HJMD is caused by mutations in the P-cadherin gene (CDH3), a member of the family of classical cadherins. Methods: We analyzed the DNA from members of 2 consanguineous Pakistani families with HJMD for mutations in the P-cadherin gene through direct sequencing. Results: We identified 2 splice site mutations in the P-cadherin gene in these families. One was a novel mutation, Ivs12-2A -> G and the other a recurrent mutation, Ivs10-1G -> T. A screening assay for the novel mutation ruled out the possibility of a polymorphism. Using haplotype analysis, we determined that the mutation, Ivs10-1G -> T, is a founder mutation in the Pakistani population. Conclusion: We identified 2 splice site mutations in the CDH3 gene leading to HJMD, further enriching our understanding of HJMD versus ectodermal dysplasia, ectrodactyly and macular dystrophy syndrome. Copyright (C) 2010 S. Karger AG, Basel
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