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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2019

Open Access 01-12-2019 | Research article

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

Authors: Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu, Xiong Wang

Published in: BMC Medical Genetics | Issue 1/2019

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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 elderly individuals (II:1 and II:4) exhibited slight hearing loss. Additionally, we detected a novel heterozygous missense mutation in exon 1 of NOG (NM_005450) c.124C > T, p.(Pro42Ser) in all patients. This c.124C > T mutation is highly conserved across multiple species and the p.(Pro42Ser) variation is potentially highly pathogenic.

Conclusion

Our results suggest that heterozygous c.124C > T, p.(Pro42Ser) in NOG is a novel mutation that causes human SYM1 phenotype.
Appendix
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Metadata
Title
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family
Authors
Yanwei Sha
Ding Ma
Ning Zhang
Xiaoli Wei
Wensheng Liu
Xiong Wang
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2019
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-019-0864-1

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