A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report
Year: 2025
Type: article
Study design: 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: 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.
DOI: 10.1002/mgg3.70051
Institutions: Baylor College of Medicine, Texas Children's Hospital, Royan Institute, Academic Center for Education, Culture and Research, Shiraz University, Shiraz University of Medical Sciences, University of Campania "Luigi Vanvitelli", Institute of Genetics and Biophysics, National Research Council, University of Naples Federico II
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,900
OpenAlex ID: W4406131169