Objective: Hydatidiform mole (HM) is defined by trophoblastic proliferation and vesicular enlargement of placental villi in which, KHDC3L gene plays a causal role.
Case report: This report presents a clinical review and genetic screening for p.Asp108Ilefs∗30 mutation in KHDC3L gene in an affected woman with a previous history of HM and three siblings with a history of HM. Pathological examination of molar pregnancy in proband confirmed a typical complete HM (CHM). Also, DNA extraction was done, polymerase chain reaction was carried out and then sequencing was performed by the Sanger sequencing method. The screened mutation was found in all three sisters in a homozygous state.
Conclusion: Egg donation is suggested for having viable children in these patients with the lowest risk of inadvertent damage.
Keywords: Familial hydatidiform mole; Gestational trophoblastic disease; KHDC3L.
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