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CAPS Mutations Are Potentially Associated with Unexplained Recurrent Pregnancy Loss
Hong Pan1, Huifen Xiang2, Jing Wang3
1Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China; Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, China; Graduate School of Peking Union Medical College, Beijing, China; Center for Genetics, National Research Institute for Family Planning, Beijing, China.
The American Journal of Pathology
|October 20, 2018
Summary
A rare genetic mutation in the calcyphosine (CAPS) gene is linked to recurrent pregnancy loss (RPL). This study identifies a specific CAPS variant as a potential cause of unexplained RPL in a consanguineous family.
Area of Science:
- Reproductive genetics
- Human genetics
- Molecular genetics
Background:
- Recurrent pregnancy loss (RPL) affects women's reproductive health, with genetics being a significant but often unknown factor.
- Maternal genetic factors contributing to unexplained RPL require further investigation.
Purpose of the Study:
- To identify the genetic cause of unexplained recurrent pregnancy loss in a consanguineous family.
- To investigate the role of calcyphosine (CAPS) gene variants in RPL pathogenesis.
Main Methods:
- Whole-exome sequencing was performed to identify genetic variants.
- Sanger sequencing was used to confirm the identified variant in affected individuals and their parents.
Main Results:
- A rare homozygous variant (c.377delC, p.Leu127Trpfs) in the CAPS gene was identified in three sisters with unexplained RPL.
- The affected sisters were homozygous for the CAPS variant, while their heterozygous parents carried the variant.
Conclusions:
- The identified autosomal recessive homozygous mutation in CAPS may be a maternal effect causative mutation for recurrent pregnancy loss.
- CAPS, a calcium-binding protein, may play a role in embryo implantation and pregnancy maintenance through calcium signaling pathways.
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