Abstract：
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.
摘要：
羊水过多有时可由遗传缺陷引起。然而,在特定病例中建立准确的诊断并提供精确的产前咨询仍然是产科医生面临的巨大挑战。为了揭示连续两次怀孕中羊水过多的遗传原因，我们对第二个患病胎儿的DNA进行了全外显子组测序，他们的父母,并有针对性地对这个家庭的其他成员进行Sanger测序。我们在MTM1基因中发现了一个半合子截短变异体,c.438_439del（p。H146Qfs*10）在这个中国家庭中。根据分子的发现，胎儿的临床表型被认为非常适合X连锁肌管肌病(XLMTM)。中国人群中MTM1相关XLMTM的产前表现尚无相关研究,这是第一个介绍。虽然羊水过多的病因很复杂,WES可能为我们提供了产前诊断的创造性途径。
