Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

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.