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KHDC3L gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KHDC3L gene

The KHDC3L gene is involved in genomic imprinting and early embryonic development, and mutations are a known cause of recurrent hydatidiform mole.

Normal Function

The KHDC3L gene provides instructions for making a protein whose exact role is not fully understood. It is thought to be involved in regulating gene activity through genomic imprinting—a phenomenon where certain genes are turned off based on which parent the copy of the gene was inherited from.

It is likely that the KHDC3L protein has additional roles in the development of egg cells (oocytes) and the embryo.

Health Conditions Related to Genetic Changes

Recurrent hydatidiform mole

Mutations in the KHDC3L gene are responsible for approximately 5 percent of cases of recurrent hydatidiform mole. This condition involves the formation of a mass in the uterus early in pregnancy, consisting of an abnormally developed embryo and placenta.

  • Oocyte Development: Mutations lead to reduced protein function, causing oocytes to develop abnormally.
  • Imprinting Issues: These mutations can prevent the proper imprinting of multiple genes, leading to abnormal gene expression.
  • Pregnancy Outcome: In affected women, a hydatidiform mole will develop in every pregnancy that occurs with her egg cells.

Other Names for This Gene

  • C6orf221
  • ECAT1
  • ES cell-associated transcript 1 protein
  • HYDM2
  • KH domain containing 3-like, subcortical maternal complex member
  • KHDC3-like protein

Frequently Asked Questions

The KHDC3L protein is essential for proper genomic imprinting of the maternal genome. When the mutation is present in the egg, the imprinting fails, leading to a complete molar pregnancy. Using donor eggs from a partner or a third party eliminates the defective maternal allele, allowing a normal pregnancy to occur.
Standard prenatal ultrasounds can identify molar changes as early as 6–8 weeks, but they do not pinpoint the underlying genetic cause. Chorionic villus sampling or amniocentesis can provide DNA for sequencing, but routine testing for KHDC3L is not performed unless there is a known family history of recurrent moles.
Couples can undergo carrier testing to confirm the mutation status of each partner. If one partner is a carrier, options include using donor gametes, pre‑implantation genetic testing (PGT) during IVF to select embryos without the mutation, or adopting. A genetic counselor can discuss the risks, benefits, and ethical considerations of each approach.
Current evidence suggests the mutation’s primary effect is on oocyte imprinting, leading to molar pregnancies. There is no strong link to other reproductive disorders or developmental abnormalities in offspring, but because imprinting mechanisms are complex, ongoing research may uncover additional associations.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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