Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review

• Published in: European journal of obstetrics & gynecology and reproductive biology 2023-12, Vol.291, p.34-38
• Main Authors: Jin, Neng, Xv, Dong, Xv, Ye-Tao, Li, Xing-Miao, Jiang, Ying, Zhu, Jing-Ping, Lu, Jve-Fei, Luo, Qiong
• Format: Article
• Language: English
• Subjects: Polyhydramnios; Truncating variant; Whole-exome sequencing; X-linked myotubular myopathy
• ISSN: 0301-2115; 1872-7654
• DOI: 10.1016/j.ejogrb.2023.10.001

Polyhydramnios can be caused by genetic defects at times. However, to establish an accurate diagnosis and provide a precise prenatal consultation in a given case is still a great challenge toward obstetricians. To uncover the genetic cause of polyhydramnios in the two consecutive pregnancies, we performed whole-exome sequencing of DNA for the second suffering fetuses, their parents, and targeted sanger sequencing of other members of this family. We discovered a hemizygous truncating variant in MTM1 gene, c.438_439 del (p. H146Q fs*10) in this Chinese family. In the light of the molecular discoveries, the fetus’s clinical phenotype was considered to be a good fit for X-linked myotubular myopathy (XLMTM). There is no related research to the prenatal manifestations of MTM1-related XLMTM among Chinese population, and this is the first one to present. Though the etiology of polyhydramnios is complicated, WES may provide us with a creative avenue in prenatal diagnosis.