A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report
ABSTRACT Background The KHDC3L gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%–10% of biparental hydatidiform moles (BiHM), and a few maternal deletions in KHDC3L have been identified in women with recurrent pregnancy loss (RPL). Method...
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2025-01-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.70051 |
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| author | Zahra Anvar Farnoosh Jafarpour Bahia Namavar Jahromi Andrea Riccio Mohammad Hossein Nasr‐Esfahani Maria Vittoria Cubellis |
| author_facet | Zahra Anvar Farnoosh Jafarpour Bahia Namavar Jahromi Andrea Riccio Mohammad Hossein Nasr‐Esfahani Maria Vittoria Cubellis |
| author_sort | Zahra Anvar |
| collection | DOAJ |
| description | ABSTRACT Background The KHDC3L gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%–10% of biparental hydatidiform moles (BiHM), and a few maternal deletions in KHDC3L have been identified in women with recurrent pregnancy loss (RPL). Method In this study, we had a patient with a history of 10 pregnancy or neonatal losses, including spontaneous abortions, neonatal deaths, and molar pregnancy. Whole‐exome sequencing (WES) was performed for genetic diagnostic testing. Results We found a homozygous deleterious variant in the start codon of KHDC3L (c. 1A>G, p.M1V), which probably results in non‐translation or the production of a truncated protein. Conclusion This is the first report of a maternal loss‐of‐function variant in KHDC3L gene in a patient experiencing various types of pregnancy loss. This case report broadens the understanding of KHDC3L's pathogenic variants and phenotypic spectrum, consistent with its crucial role during human pre‐ and post‐implantation development. |
| format | Article |
| id | doaj-art-0546fb3803f640f996b440486a19918d |
| institution | Kabale University |
| issn | 2324-9269 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj-art-0546fb3803f640f996b440486a19918d2025-01-24T08:16:42ZengWileyMolecular Genetics & Genomic Medicine2324-92692025-01-01131n/an/a10.1002/mgg3.70051A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case ReportZahra Anvar0Farnoosh Jafarpour1Bahia Namavar Jahromi2Andrea Riccio3Mohammad Hossein Nasr‐Esfahani4Maria Vittoria Cubellis5Department of Obstetrics and Gynecology Baylor College of Medicine Houston Texas USADepartment of Animal Biotechnology, Reproductive Biomedicine Research Center Royan Institute for Biotechnology, ACECR Isfahan IranInfertility Research Centre Shiraz University of Medical Sciences Shiraz IranDepartment of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF) Università Degli Studi Della Campania “Luigi Vanvitelli” Caserta ItalyDepartment of Animal Biotechnology, Reproductive Biomedicine Research Center Royan Institute for Biotechnology, ACECR Isfahan IranDepartment of Biology Università Degli Studi Di Napoli “Federico II” Naples ItalyABSTRACT Background The KHDC3L gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%–10% of biparental hydatidiform moles (BiHM), and a few maternal deletions in KHDC3L have been identified in women with recurrent pregnancy loss (RPL). Method In this study, we had a patient with a history of 10 pregnancy or neonatal losses, including spontaneous abortions, neonatal deaths, and molar pregnancy. Whole‐exome sequencing (WES) was performed for genetic diagnostic testing. Results We found a homozygous deleterious variant in the start codon of KHDC3L (c. 1A>G, p.M1V), which probably results in non‐translation or the production of a truncated protein. Conclusion This is the first report of a maternal loss‐of‐function variant in KHDC3L gene in a patient experiencing various types of pregnancy loss. This case report broadens the understanding of KHDC3L's pathogenic variants and phenotypic spectrum, consistent with its crucial role during human pre‐ and post‐implantation development.https://doi.org/10.1002/mgg3.70051biparental hydatidiform molerecurrent pregnancy losssubcortical maternal complexwhole‐exome sequencing |
| spellingShingle | Zahra Anvar Farnoosh Jafarpour Bahia Namavar Jahromi Andrea Riccio Mohammad Hossein Nasr‐Esfahani Maria Vittoria Cubellis A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report Molecular Genetics & Genomic Medicine biparental hydatidiform mole recurrent pregnancy loss subcortical maternal complex whole‐exome sequencing |
| title | A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report |
| title_full | A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report |
| title_fullStr | A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report |
| title_full_unstemmed | A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report |
| title_short | A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report |
| title_sort | maternal loss of function variant in khdc3l gene causes a range of adverse pregnancy outcomes a case report |
| topic | biparental hydatidiform mole recurrent pregnancy loss subcortical maternal complex whole‐exome sequencing |
| url | https://doi.org/10.1002/mgg3.70051 |
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