A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report

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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Main Authors: Zahra Anvar, Farnoosh Jafarpour, Bahia Namavar Jahromi, Andrea Riccio, Mohammad Hossein Nasr‐Esfahani, Maria Vittoria Cubellis
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
biparental hydatidiform mole
recurrent pregnancy loss
subcortical maternal complex
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.70051
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https://doi.org/10.1002/mgg3.70051

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