TY - JOUR

T1 - Further delineation of facioaudiosymphalangism syndrome

T2 - Description of a family with a novel NOG mutation and without hearing loss

AU - Bayat, Allan

AU - Fijalkowski, Igor

AU - Andersen, Tobias

AU - Abdulmunem, Sura Azhar

AU - van den Ende, Jenneke

AU - Van Hul, Wim

N1 - Publisher Copyright: © 2016 Wiley Periodicals, Inc.

PY - 2016/6/1

Y1 - 2016/6/1

N2 - 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.

AB - 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.

KW - Facioaudiosymphalangism syndrome

KW - Hyperopia

KW - NOG gene

KW - Noggin

KW - Proximal symphalangism

KW - SYNS

UR - http://www.scopus.com/inward/record.url?scp=84961842632&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37626

DO - 10.1002/ajmg.a.37626

M3 - Journal article

C2 - 26994744

AN - SCOPUS:84961842632

VL - 170

SP - 1479

EP - 1484

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 6

ER -