%0 Case Reports
%T Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review.
%A Jin N
%A Xv D
%A Xv YT
%A Li XM
%A Jiang Y
%A Zhu JP
%A Lu JF
%A Luo Q
%J Eur J Obstet Gynecol Reprod Biol
%V 291
%N 0
%D 2023 Dec 2
%M 37813004
%F 2.831
%R 10.1016/j.ejogrb.2023.10.001
%X 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.