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Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

Abstract

Hydatidiform mole (HM) is an abnormal human pregnancy with no embryo and cystic degeneration of placental villi. We report five mutations in the maternal gene NALP7 in individuals with familial and recurrent HMs. NALP7 is a member of the CATERPILLER protein family involved in inflammation and apoptosis. NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation.

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Figure 1: Analysis of splice site mutations.

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Acknowledgements

We thank the family members for their participation, L. Zahed, T. Tulandi, A. Mehio, L. Karemera and P. Lepage. R.S. is supported by the Fonds de Recherche en Santé du Québec and by an operating grant and an international development grant from the Canadian Institutes of Health Research.

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Correspondence to Rima Slim.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Partial pedigree of family MoLb1 showing the limit of the proximal boundary of the hydatidiform mole candidate locus on 19q13.4. (PDF 60 kb)

Supplementary Fig. 2

Pedigree of family MoPa61 with recurrent hydatidiform moles. (PDF 61 kb)

Supplementary Table 1

Ethnic origin of normal control samples. (PDF 60 kb)

Supplementary Methods (PDF 62 kb)

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Murdoch, S., Djuric, U., Mazhar, B. et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 38, 300–302 (2006). https://doi.org/10.1038/ng1740

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