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Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss
Author(s) -
Bayat Allan,
Fijalkowski Igor,
Andersen Tobias,
Abdulmunem Sura Azhar,
van den Ende Jenneke,
Van Hul Wim
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37626
Subject(s) - hearing loss , phenotype , genetics , gene , mutation , biology , congenital hearing loss , medicine , sensorineural hearing loss , audiology
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.