ArticleAmerican journal of human genetics2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 1 of them a synthesis that pooled it.
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Who cites it
96 citing papers in PubMed, 1 synthesis or guideline pooled it, 247 citations in OpenAlex.
- Magnitude and histopathological patterns of gestational trophoblastic disease in Africa: a systematic review and meta-analysis.BMJ open · 2025Pooled it
- Review
- TCL1A mediates DNA methylation defects in recurrent hydatidiform mole with NLRP7 pathogenic variants.Nature communications · 2026Article
- Novel missense variants in COX15 cause oocyte degeneration and female infertility.Journal of assisted reproduction and genetics · 2026Article
- The retrospective data analysis of NLRP7 and KHDC3L mutations in Turkish patients with recurrent hydatidiform mole.Turkish journal of obstetrics and gynecology · 2025Article
- Maternal loss of mouse Nlrp2 alters the transcriptome and DNA methylome in GV oocytes and impairs zygotic genome activation in embryos.Clinical epigenetics · 2025Article
- Subcortical Maternal Complex in Female Infertility: A Transition from Animal Models to Human Studies.Molecular biology reports · 2025Review
- A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report.Molecular genetics & genomic medicine · 2025Article
- Creation of true interspecies hybrids: Rescue of hybrid class with hybrid cytoplasm affecting growth and metabolism.Science advances · 2024Article
- Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.Clinical epigenetics · 2024Review
- Maternal loss-of-function of Nlrp2 results in failure of epigenetic reprogramming in mouse oocytes.Research square · 2024Article
- Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles.Virchows Archiv : an international journal of pathology · 2024Review
- Structural basis of the subcortical maternal complex and its implications in reproductive disorders.Nature structural & molecular biology · 2024Article
- Familial recurrent molar pregnancy: positive for KHDC3L gene mutation.BMJ case reports · 2023Article
- Loss of the Maternal Effect Gene Nlrp2 Alters the Transcriptome of Ovulated Mouse Oocytes and Impacts Expression of Histone Demethylase KDM1B.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest.Frontiers in genetics · 2023Article
- Article
- Review
- A novel homozygous mutation in the PADI6 gene causes early embryo arrest.Reproductive health · 2022Article
- 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
36 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 6 institutions in 4 countries.
Funding
Abstract
Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect recessive inherited disorder in humans. Affected women, although developmentally normal themselves, suffer repeated pregnancy loss because of the development of the conceptus into a complete hydatidiform mole in which extraembryonic trophoblastic tissue develops but the embryo itself suffers early demise. This developmental phenotype results from a genome-wide failure to correctly specify or maintain a maternal epigenotype at imprinted loci. Most cases of FBHM result from mutations of NLRP7, but genetic heterogeneity has been demonstrated. Here, we report biallelic mutations of C6orf221 in three families with FBHM. The previously described biological properties of their respective gene families suggest that NLRP7 and C6orf221 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome.
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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.