Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Standard
Further delineation of facioaudiosymphalangism syndrome : Description of a family with a novel NOG mutation and without hearing loss. / Bayat, Allan; Fijalkowski, Igor; Andersen, Tobias; Abdulmunem, Sura Azhar; van den Ende, Jenneke; Van Hul, Wim.
I: American Journal of Medical Genetics, Part A, Bind 170, Nr. 6, 01.06.2016, s. 1479-1484.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
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 -
ID: 389757042