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Article

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

Molecular genetics & genomic medicine - 1 Jun 2021

Hayashi Takaaki, Katagiri Satoshi, Kubota Daiki, Mizobuchi Kei, Ishiuji Yozo, Asahina Akihiko, Kameya Shuhei, Nakano Tadashi

Abstract excerpt

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...

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PMID: 33837674
DOI: 10.1002/mgg3.1688
PMCID: PMC8222849

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