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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles
Prenatal Diagnosis, Volume 33, No. 13, Year 2013
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Description
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.
Authors & Co-Authors
Mahadevan, Sangeetha
United States, Houston
Baylor College of Medicine
United States, Houston
Texas Children's Hospital
Wen, Shu
United States, Houston
Baylor College of Medicine
Balasa, Alfred
United States, Houston
Baylor College of Medicine
United States, Houston
Texas Children's Hospital
Fruhman, Gary
United States, Houston
Baylor College of Medicine
Mateus, Julio
United States, Galveston
The University of Texas Medical Branch at Galveston
Wagner, A. F.
United States, Norman
The University of Oklahoma
Al-Hussaini, Tarek Khalaf
Egypt, Asyut
Faculty of Medicine
Van den Veyver, I. B.
United States, Houston
Baylor College of Medicine
United States, Houston
Texas Children's Hospital
Statistics
Citations: 8
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1002/pd.4239
ISSN:
01973851
e-ISSN:
10970223
Research Areas
Cancer
Genetics And Genomics
Sexual And Reproductive Health
Participants Gender
Female