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No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles
Author(s) -
Mahadevan Sangeetha,
Wen Shu,
Balasa Alfred,
Fruhman Gary,
Mateus Julio,
Wagner Andrew,
AlHussaini Tarek,
Van den Veyver Ignatia B.
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4239
Subject(s) - medicine , gynecology , obstetrics
Objective The objective of this study was to evaluate the mutational spectrum of NLRP7 and KHDC3L ( C6orf221 ) in women with sporadic and recurrent androgenetic complete hydatidiform moles (AnCHM) and biparental hydatidiform moles (BiHM) to address the hypothesis that autosomal recessive mutations in these genes are only or primarily associated with BiHM. Method We recruited 16 women with suspected recurrent and sporadic AnCHM and five women with suspected BiHM in addition to their reproductive partners into our study. We then sequenced the coding exons of NLRP7 and KHDC3L from DNA isolated from either blood or saliva from the study subjects. Results Sequence analysis of NLRP7 and KHDC3L revealed previously described single nucleotide polymorphisms in patients with AnCHM. However, in patients with BiHM, we identified a novel homozygous mutation and a previously described intragenic duplication of exons 2 to 5 in NLRP7 , both of which are likely to be disease causing. We did not identify mutations in KHDC3L in patients with either form of hydatidiform moles. Conclusions The absence of mutations in women with AnCHM supports a role for NLRP7 or KHDC3L in BiHM only. The absence of mutations in KHDC3L in women with BiHM is consistent with its minor role in this disease compared with NLRP7 , the major BiHM gene. © 2013 John Wiley & Sons, Ltd.