Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
June 2022
in “
Chinese medical journal/Chinese Medical Journal
”
TLDR Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
This study describes a 10-year-old Chinese girl with hypotrichosis and juvenile macular dystrophy (HJMD) due to novel compound heterozygous mutations in the CDH3 gene, specifically c.2102_2103delAT and c.2158C>T. These mutations cause nonsense-mediated mRNA decay, leading to a loss of P-cadherin function, which is essential for hair follicle development and retinal health. A review of 116 HJMD cases revealed no clear genotype-phenotype correlation due to phenotypic heterogeneity, thereby expanding the genetic and phenotypic understanding of HJMD.
