The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy.

ABSTRACT:

Background

Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive inherited disorder caused by biallelic variants in the CDH3 gene encoding P-cadherin. Here, we report two Japanese sibling patients with HJMD.

Methods

Whole-exome sequencing (WES) was performed to identify disease-causing variants. In addition, ophthalmic and dermatological examinations were performed to classify the phenotype of each patient.

Results

The WES analysis revealed novel compound heterozygous CDH3 variants [c.123_129dupAGGCGCG (p.Glu44fsX26) and c.2280+1G>T] in both patients; the unaffected, nonconsanguineous parents each exhibited one of the variants. Both patients showed the same clinical findings. Ophthalmologically, they exhibited progressive loss of visual ac

SUBMITTER: Hayashi T 

PROVIDER: S-EPMC8222849 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature