Kh Domain Containing 3 Like (Khdc3l) Frame-Shift Mutation Causes Both Recurrent Pregnancy Loss and Hydatidiform Mole

Kh Domain Containing 3 Like (Khdc3l) Frame-Shift Mutation Causes Both Recurrent Pregnancy Loss and Hydatidiform Mole Publisher Pubmed

Fatemi N^{1, 2} ; Ray PF^{3, 4} ; Ramezanali F⁵ ; Shahani T¹ ; Amiriyekta A² ; Kherraf ZE^{3, 4} ; Cazin C^{3, 4} ; Almadani N² ; Varkiani M^{2, 6} ; Sarmadi S⁷ ; Sodeifi N⁸ ; Gourabi H² ; Biglari A¹ ; Totonchi M^{2, 9}

Show Affiliations

1. Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran
2. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
3. Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM 1209, CNRS UMR 5309, Universite Grenoble Alpes, Grenoble, F38000, France
4. Unite Medicale de genetique de l'infertilite et de diagnostic pre-implantatoire (GI-DPI), Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, 38000, France
5. Department of Endocrinology and Female Infertility, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
6. Department of Molecular Genetics, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, Tehran, Iran
7. Department of Pathology, Mohebb-e-Yas Women Hospital, Tehran University of Medical Sciences, Tehran, Iran
8. Department of Andrology at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
9. Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran

Source: European Journal of Obstetrics and Gynecology and Reproductive Biology Published:2021

Abstract

Objective: Recurrent pregnancy loss (RPL) is a common infertility-related complication that affects approximately 1–3 % of women worldwide. Known causes of etiology are found in approximately half the cases but the other half remain unexplained. It is estimated that several thousands of genes contribute to reproductive success in mammals and the genetic causes of RPL cannot be fully addressed through targeted genetic tests. In recent years, massive parallel sequencing technologies has helped discovering many causal mutations in hereditary diseases such as RPL. Study design: Using whole-exome sequencing (WES), we studied a large multiplex consanguineous family with multiple cases of RPL and hydatidiform moles (HM). In addition, targeted Sanger sequencing was applied to 40 additional non-related individuals with RPL. Results: The use of WES permitted to identify the pathogenic variant in KHDC3L (c.322_325delGACT) in related who experienced RPL with or without HM. Sanger sequencing confirmed the segregation of the mutation throughout the pedigree and permitted to establish this variant as the genetic cause responsible for RPL and HM in this family. Conclusion: KHDC3L is well established as a susceptibility gene for HM but we confirmed here that KHDC3L deleterious variants can also induce RPL. In addition, we observed a genotype-phenotype correlation, demonstrating that women with a truncating KHDC3L homozygous variant could not sustain a pregnancy and often had pregnancy losses mainly due to HM while those with the same heterozygous variant could have children but often endured RPL with no HM. © 2021 Elsevier B.V.

Experts (# of related papers)

Rana Karimi (1)

Fardin Amidi (1)

Style	Citing Format
MLA	Fatemi N, et al.. "Kh Domain Containing 3 Like (Khdc3l) Frame-Shift Mutation Causes Both Recurrent Pregnancy Loss and Hydatidiform Mole." European Journal of Obstetrics and Gynecology and Reproductive Biology, vol. 259, no. , 2021, pp. 100-104.
APA	Fatemi N, Ray PF, Ramezanali F, Shahani T, Amiriyekta A, Kherraf ZE, Cazin C, Almadani N, Varkiani M, Sarmadi S, Sodeifi N, Gourabi H, Biglari A, Totonchi M (2021). Kh Domain Containing 3 Like (Khdc3l) Frame-Shift Mutation Causes Both Recurrent Pregnancy Loss and Hydatidiform Mole. European Journal of Obstetrics and Gynecology and Reproductive Biology, 259(), 100-104.
Chicago	Fatemi N, Ray PF, Ramezanali F, Shahani T, Amiriyekta A, Kherraf ZE, Cazin C, et al.. "Kh Domain Containing 3 Like (Khdc3l) Frame-Shift Mutation Causes Both Recurrent Pregnancy Loss and Hydatidiform Mole." European Journal of Obstetrics and Gynecology and Reproductive Biology 259, no. (2021): 100-104.
Harvard	Fatemi N et al. (2021) 'Kh Domain Containing 3 Like (Khdc3l) Frame-Shift Mutation Causes Both Recurrent Pregnancy Loss and Hydatidiform Mole', European Journal of Obstetrics and Gynecology and Reproductive Biology, 259(), pp. 100-104.
Vancouver	Fatemi N, Ray PF, Ramezanali F, Shahani T, Amiriyekta A, Kherraf ZE, et al.. Kh Domain Containing 3 Like (Khdc3l) Frame-Shift Mutation Causes Both Recurrent Pregnancy Loss and Hydatidiform Mole. European Journal of Obstetrics and Gynecology and Reproductive Biology. 2021;259():100-104.
BibTex	@article{ author = {Fatemi N and Ray PF and Ramezanali F and Shahani T and Amiriyekta A and Kherraf ZE and Cazin C and Almadani N and Varkiani M and Sarmadi S and Sodeifi N and Gourabi H and Biglari A and Totonchi M}, title = {Kh Domain Containing 3 Like (Khdc3l) Frame-Shift Mutation Causes Both Recurrent Pregnancy Loss and Hydatidiform Mole}, journal = {European Journal of Obstetrics and Gynecology and Reproductive Biology}, volume = {259}, number = {}, pages = {100-104}, year = {2021} }
RIS	TY - JOUR AU - Fatemi N AU - Ray PF AU - Ramezanali F AU - Shahani T AU - Amiriyekta A AU - Kherraf ZE AU - Cazin C AU - Almadani N AU - Varkiani M AU - Sarmadi S AU - Sodeifi N AU - Gourabi H AU - Biglari A AU - Totonchi M TI - Kh Domain Containing 3 Like (Khdc3l) Frame-Shift Mutation Causes Both Recurrent Pregnancy Loss and Hydatidiform Mole JO - European Journal of Obstetrics and Gynecology and Reproductive Biology VL - 259 IS - SP - 100 EP - 104 PY - 2021 ER -

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