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Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss

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Mutations in the NOG gene give rise to a wide range of clinical phenotypes. Noggin, the protein encoded by this gene is a secreted modulator of multiple pathways involved in both bone and joint development. Proximal symphalangism is commonly observed in patients bearing mutations in this gene, however secondary symptomes are often found including typical facies with hemicylindrical nose with bulbous tip, hyperopia, reduced mobility of multiple joints, hearing loss due to stapes fixation, and recurrent pain from affected joints. With large variation of the phenotype both within and between affected families careful delineation of the genotype-phenotype correlation is needed. In this work we describe a Danish family suffering from SYNS1 due to a novel NOG gene mutation (C230Y). We provide detailed clinical description of the family members presenting rare phenotype of the shoulders shared by affected individuals but no hearing loss, further adding to the phenotypic variability of the syndrome. With these findings we broaden the understanding of NOG-related-symphalangism spectrum disorder. © 2016 Wiley Periodicals, Inc.

OriginalsprogEngelsk
TidsskriftAmerican Journal of Medical Genetics, Part A
Vol/bind170
Udgave nummer6
Sider (fra-til)1479-84
Antal sider6
ISSN1552-4825
DOI
StatusUdgivet - jun. 2016

ID: 49514022