Open AccessNovel SPEG variant cause centronuclear myopathy in China
Author(s) -
Tang Jia,
Ma Wei,
Chen Yangran,
Jiang Runze,
Zeng Qinlong,
Tan Jieliang,
Jiang Hongqing,
Li Qing,
Zhang Victor W.,
Wang Jing,
Tang Hui,
Luo Liangping
Publication year - 2020
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23054
Subject(s) - arthrogryposis , exome sequencing , hypotonia , genetic heterogeneity , medicine , facial weakness , genetics , congenital myopathy , pathology , weakness , bioinformatics , biology , gene , pediatrics , anatomy , mutation , muscle biopsy , biopsy , phenotype
Background Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since the discovery of the SPEG gene and disease‐causing variants, only a few additional patients have been reported. Methods A radiograph test, ultrasonic test, and biochemical tests were applied to clinical diagnosis of CNM. We performed trio medical exome sequencing of the family and conservation analysis to identify variants. Results We report a pair of severe CNM twins with the same novel homozygous SPEG variant c. 8710A>G (p.Thr2904Ala) identified by clinical trio medical exome sequencing of the family and conservation analysis. The twins showed clinical symptoms of facial weakness, hypotonia, arthrogryposis, strephenopodia, patent ductus arteriosus, and pulmonary arterial hypertension. Conclusions Our report expands the clinical and molecular repertoire of CNM and enriches the variant spectrum of the SPEG gene in the Chinese population and helps us further understand the pathogenesis of CNM.