Absence of KHDC3L mutations in Chinese patients with recurrent and sporadic hydatidiform moles

To date, two maternal-effect genes have been shown to play causal roles in recurrent hydatidiform moles (RHMs). NLRP7, a major gene for this condition, codes for a nucleotide-binding oligomerization domain-like receptor and is mutated in 48 to 60% of patients with RHMs. KHDC3L is a recently identified gene that is mutated in 14% of NLRP7-negative patients. We screened KHDC3L for mutations in a total of 101 Chinese patients, 15 with at least two hydatidiform moles, 16 with at least two reproductive losses including one hydatidiform mole, and 70 with one hydatidiform mole and no other form of reproductive loss, but did not find any mutation. Our data favor the causal role of KHDC3L in a minority of RHM cases, demonstrate its noninvolvement in other forms of reproductive loss, and indicate the presence of other unidentified genes that cause or increase patients' susceptibility to RHMs in the Chinese population.