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

European journal of obstetrics, gynecology, and reproductive biology - 1 Dec 2023

Jin Neng, Xv Dong, Xv Ye-Tao, Li Xing-Miao, Jiang Ying, Zhu Jing-Ping, Lu Jve-Fei, Luo Qiong

Abstract excerpt

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...

Topics

Pregnancy
Female
Humans
Exome Sequencing
Polyhydramnios
Protein Tyrosine Phosphatases, Non-Receptor
Mutation
Myopathies, Structural, Congenital

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37813004
DOI: 10.1016/j.ejogrb.2023.10.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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