No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles (pages 1242–1247)
Sangeetha Mahadevan, Shu Wen, Alfred Balasa, Gary Fruhman, Julio Mateus, Andrew Wagner, Tarek Al-Hussaini and Ignatia B. Van den Veyver
Version of Record online: 4 OCT 2013 | DOI: 10.1002/pd.4239
What's already known about this topic?
- Mutations in NLRP7 and KHDC3L are causative of biparental hydatidiform moles (BiHM).
- This suggests that NLRP7 and KHDC3L may play critical roles in imprint acquisition and maintenance of DNA methylation.
What does this study add?
- Some current literature suggests a role for NLRP7 and KHDC3L in the etiology of androgenetic hydatidiform moles (HM) and other adverse reproductive outcomes.
- We challenged these observations and in the present study demonstrated a lack of evidence for mutations in NLRP7 and KHDC3L in androgenetic HM and only showed association of mutations in these genes with BiHM.