LAUSR

To the Editor: Hypotrichosis with juvenile macular dystrophy (HJMD, OMIM: 601553) is a rare autosomal recessive disorder characterized by short and sparse hair, progressive macular degeneration, decreased visual acuity, and even blindness in early life. Mutations responsible for HJMD have been identi fi ed in the cadherin 3 gene ( CDH3 , OMIM: 114021) on chromosome 16q22.1. This gene encodes P-cadherin, a calcium-dependent cell – cell adhesion protein that plays a signi fi cant role in the development of hair follicles [1] and the retinal pigmented epithelium. [2] To date, 30 HJMD pedigrees and 20 sporadic cases involving 36 mutations in the CDH3 gene have been reported. In this study, we present a sporadic Chinese HJMD case with novel compound heterozygous nonsense mutations and conduct a literature review of genotype-phenotype correlation in 116 HJMD individuals. This study was approved by the Ethics Committee of the Children ’ s Hospital, Zhejiang University School of Medicine (No. 2022-IRB-046), and was conducted according to the Declaration of Helsinki . Informed consent was obtained