The identification of a novel splicing mutation in the DMD gene of a Chinese family

Wanlu Liu; Xinwei Shi; Yuqi Li; Fuyuan Qiao; Yuanyuan Wu

doi:10.1002/ccr3.5166

The identification of a novel splicing mutation in the DMD gene of a Chinese family

Clin Case Rep. 2021 Dec 9;9(12):e05166. doi: 10.1002/ccr3.5166. eCollection 2021 Dec.

Authors

Wanlu Liu¹, Xinwei Shi¹, Yuqi Li¹, Fuyuan Qiao¹, Yuanyuan Wu¹

Affiliation

¹ Department of Obstetrics and Gynecology Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China.

Abstract

The proband is a five-year-old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproductive choices.

Keywords: DMD gene; c.2293‐1G>C; minigene; splicing mutation.

Publication types

Case Reports