Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

ABSTRACT:

Background

Proximal symphalangism (SYM1; OMIM 185800), also called Cushing's symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal joints in the hands and feet.

Methods

We recruited a four-generation Chinese non-consanguineous family with SYM1. We examined their hands and feet using X-rays to confirm fusion of proximal interphalangeal joints. We evaluated their audiology using standard audiometric procedures and equipment. Then, we identified genetic variants using whole exome sequencing and validated mutations using Sanger sequencing. Mutation pathogenicity was analyzed with bioinformatics.

Results

Radiographs revealed proximal-joint fusion of fingers and toes in the patients. Two el

SUBMITTER: Sha Y 

PROVIDER: S-EPMC6670124 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature