Proximal symphalangism caused by NOG gene novel mutation: A family report
10.3760/cma.j.cn311282-20191008-00410
- VernacularTitle:NOG基因新突变导致近端指(趾)骨间关节粘连一家系报告
- Author:
Xiaoyun LIN
1
;
Lihong GAO
;
Zhenlin ZHANG
;
Hua YUE
Author Information
1. 上海交通大学附属第六人民医院骨质疏松和骨病科，上海市骨疾病临床研究中心 200233
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(8):711-714
- CountryChina
- Language:Chinese
-
Abstract:
Proximal symphalangism is a rare hereditary bone disease caused by NOG or GDF5 gene mutations, of which NOG gene mutations account for the majority. A family of SYM1 was reported. Patient was a man with proximal interphalangeal joint stiffness of bilateral fingers for more than 20 years. Combined with laboratory and imaging examinations, the patient was diagnosed with proximal symphalangism. 4 other subjects in this family are affected. The detection of NOG gene mutations of the proband and his mother and son showed that there were heterozygous missense mutations in exon 1, c.667C>T, resulting in p. Pro223Ser. The pathogenesis, clinical and imaging manifestations of SYM1 were reviewed in combination with literature to improve clinicians′ understanding of the disease.
