Details

Autor(en) / Beteiligte

• Hua, C X
• Liu, L N
• Yang, S Z
• Xin, S W
• Kong, X D

Titel

Analysis of DMD gene variants in a single center

Ist Teil von

• Zhonghua er ke za zhi, 2024-02, Vol.62 (2), p.153

Ort / Verlag

China

Erscheinungsjahr

2024

Quelle

MEDLINE

Beschreibungen/Notizen

• To investigate the DMD genetic variants of the Chinese population with Duchenne (DMD) and Becker muscular dystrophies (BMD). A cross-sectional study was conducted on 2 690 unrelated patients with DMD and BMD aged 0-18 who visited the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2005 to February 2022. The clinical data, such as gender, age, clinical manifestations, and address, were collected. Multiplex ligation-dependent probe amplification, next generation sequencing panel, Sanger sequencing, and PCR amplification were used to detect the variants of the DMD gene in the patients, whose clinical information and gene detection results were descriptively analyzed. The 2 690 patients included 2 648 males and 42 females, with an age of 6.0 (4.0, 9.0) years. The serum creatine kinase increased in all patients. Pathogenic DMD gene variants were detected in the 2 618 patients, including 1 875 cases (71.6%) large deletions, 231 cases (8.8%) duplications, a