Whole‑exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion

Fu,Meng; Mu,Sha; Wen,Chunyan; Jiang,Shufang; Li,Lin; Meng,Yuanguang; Peng,Hongmei

doi:10.3892/mmr.2018.9201

Whole‑exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion

Authors:
- Meng Fu
- Sha Mu
- Chunyan Wen
- Shufang Jiang
- Lin Li
- Yuanguang Meng
- Hongmei Peng
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Affiliations: Department of Obstetrics and Gynecology, Chinese People's Liberation Army (PLA) General Hospital, Chinese PLA Medical School, Beijing 100853, P.R. China, Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, P.R. China
Published online on: June 21, 2018 https://doi.org/10.3892/mmr.2018.9201
Pages: 2027-2032
Copyright: © Fu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Missed abortion (MA) refers to a pregnancy in which there is fetal demise without outside intervention, and additionally no uterine activity that may expel the product of conception (POC) prior to 20 weeks of gestation. Chromosomal abnormalities are the primary cause of MA and single gene defects in the POC may additionally be associated with MA; however, few studies have been conducted on the identification of mutations by whole‑exome sequencing. In the present study, 19 unrelated MA POCs were collected and whole‑exome sequencing was performed on the POC. Bioinformatics analysis was performed on sequence variants from a list of 286 selected candidate genes that were associated with early embryonic lethality and MA. A total of 36 sequence variants in 32 genes potentially associated with MA were identified in 15 out of 19 patients. Gene Ontology analysis suggested that these genes were enriched in biological processes in early embryonic development, including ‘chordate embryonic development’, ‘cell proliferation’ and ‘forebrain development’. Further strict in silico bioinformatics analysis predicted that the LIM domain‑binding protein 1 (c.662C>T; p.S221L) variant was a highly pathogenic variant. In conclusion, the results of the present study provide researchers and clinicians with a better understanding of the etiology and molecular mechanism of human embryonic lethality and MA.

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