Proximal symphalangism caused by NOG gene novel mutation: A family report / 中华内分泌代谢杂志

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.