Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy

June 2022 in “ Chinese medical journal/Chinese Medical Journal ”

Yunqing Ren, Jipeng Liu, Dianyi Yao, Huixia Hua, Xiaoxuan Guo, Huatuo Dai, N. H. Dang, Yan Huang, Dianhe Yu

hypotrichosis juvenile macular dystrophy CDH3 gene P-cadherin hair follicle development

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.

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