ArticleHuman genome variation2016
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.
Article in Human genome variation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Molecular Basis of Hydatidiform Moles-A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Subcortical Maternal Complex in Female Infertility: A Transition from Animal Models to Human Studies.Molecular biology reports · 2025Review
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Familial recurrent molar pregnancy: positive for KHDC3L gene mutation.BMJ case reports · 2023Article
- Recurrent Partial Hydatidiform Mole: A Case Report of Seven Consecutive Molar Pregnancies.International journal of women's health · 2023Article
- Review
- Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.Clinical epigenetics · 2022Article
- Application of next-generation sequencing to preimplantation genetic testing for recurrent hydatidiform mole patients.Journal of assisted reproduction and genetics · 2021Article
- Exome-Sequencing Identifies Novel Genes Associated with Recurrent Pregnancy Loss in a Chinese Cohort.Frontiers in genetics · 2021Article
- Genome integrity and neurogenesis of postnatal hippocampal neural stem/progenitor cells require a unique regulator Filia.Science advances · 2020Article
- Article
- Founder Effect of KHDC3L, p.M1V Mutation, on Iranian Patients with Recurrent Hydatidiform Moles.Iranian journal of medical sciences · 2020Article
- KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells.PLoS biology · 2019Article
- A Novel Mutation in NLRP7 Related to Recurrent Hydatidiform Mole and Reproductive Failure.International journal of fertility & sterility · 2019Article
- Hepatic toxicity following actinomycin D chemotherapy in treatment of familial gestational trophoblastic neoplasia: A case report.Medicine · 2018Article
- The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Decoding the Genetics of Recurrent Molar Pregnancy.Journal of human reproductive sciencesArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recurrent hydatidiform mole (RHM) is defined by the occurrence of repeated molar pregnancies in affected women. Two genes, NLRP7 and KHDC3L, play a causal role in RHM and are responsible for 48-80% and 5% of cases, respectively. Here, we report the results of screening these two genes for mutations in one Iranian and one Indian patient with RHM. No mutations in NLRP7 were identified in the two patients. KHDC3L sequencing identified two novel protein-truncating mutations in a homozygous state, a 4-bp deletion, c.17_20delGGTT (p.Arg6Leufs*7), in the Iranian patient and a splice mutation, c.349+1G>A, that affects the invariant donor site at the junction of exon 2 and intron 2 in the Indian patient. To date, only four mutations in KHDC3L have been reported. The identification of two additional mutations provides further evidence for the important role of KHDC3L in the pathophysiology of RHM and increases the diversity of mutations described in Asian populations.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.