Elsevier

Cancer Genetics

Volume 206, Issues 9–10, September–October 2013, Pages 327-329
Cancer Genetics

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

https://doi.org/10.1016/j.cancergen.2013.09.003Get rights and content

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.

Section snippets

Materials and methods

In this study, we investigated the presence of KHDC3L mutations in a total of 101 unrelated Chinese patients. A questionnaire recapitulating the medical and family histories was completed for every patient. DNA was isolated from whole blood cells using a Flexigene DNA kit (Qiagen, Valencia, CA). Patients were gathered from various clinics in the province of Zhejiang. Histopathology slides from all HM tissues were reviewed by the pathologist of the Women's Hospital at the Zhejiang University

Results

Among these 101 patients, NLRP7 sequencing had been performed only for the 15 patients with RHMs, and no mutations were found. KHDC3L sequences were compared with reference sequence NM_001017361.2 and annotated. This analysis did not reveal any mutation. In the three analyzed categories of patients, only two NSVs in KHDC3L that are reported in public databases were observed, c.289G>C leading to p.E97Q and c.602C>G leading to p.A201G. These two NSVs were found at similar frequencies in our 101

Discussion

The lack of KHDC3L mutations in the 15 analyzed patients with recurrent moles could be because these patients did not have high numbers of RHMs and reproductive losses, with an average of 2.5, compared with previously reported patients with KHDC3L mutations, who had on average 6.3 pregnancies 20, 21. This argument may also explain the lower frequency of NLRP7 mutations found in an overlapping cohort of Chinese patients with at least two HMs, 48%, relative to the frequencies of NLRP7 mutations

Acknowledgments

We thank the patients, their families, and control participants for their cooperation.

This work was supported by the National Natural Science Foundation of China (30973172); the National Natural Science Foundation of China (81261120569); Major Science and Technology Projects of Science and technology Department of Zhejiang Province (2009C14012); and the Canadian Institute of Health Research (CCI-125687).

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