Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

November 2003 in “ Journal of Investigative Dermatology ”

Margarita Indelman, Christian Hamel, Reuven Bergman, Ken K. Nischal, Dorothy Thompson, Marie-Odile Surget, Michal Ramon, Hatam Ganthos, Benjamin Miller, Gabriele Richard, Raziel Lurie, Rina Leibu, Isabelle Russell‐Eggitt, Eli Sprecher

hypotrichosis juvenile macular dystrophy CDH3 mutations hair structure skin conditions

TLDR Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

In the 2003 study, 27 individuals from five families were examined to understand the relationship between CDH3 mutations and the characteristics of hypotrichosis with juvenile macular dystrophy (HJMD). The study found that all affected individuals had harmful mutations in both alleles of the CDH3 gene, including four previously unidentified mutations. Two large Arab Israeli families had the same R503H mutation, indicating a possible founder effect. Despite the genetic similarity, there was a notable variation in symptoms among the families and even within the same family, such as in hair structure, skin conditions, and the degree and timing of vision loss. The research confirmed that CDH3 mutations are responsible for HJMD, but the disorder exhibits a wide range of physical manifestations.

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Related Research

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research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy

15 citations, November 2012 in “Archives of Ophthalmology”

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

52 citations, November 2003 in “Journal of Investigative Dermatology”

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.