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

Nature Genetics volume 38, pages 300–302 (2006)Cite this article

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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Author notes

  1. Batool Mazhar and Muheiddine Seoud: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Human Genetics, McGill University Health Center, Montreal, H3G 1A4, Canada

    Sharlene Murdoch, Ugljesa Djuric, Rabia Khan & Rima Slim

  2. Department of Obstetrics and Gynecology, McGill University Health Center, Montreal, H3G 1A4, Canada

    Sharlene Murdoch, Ugljesa Djuric, Rabia Khan, Asangla Ao & Rima Slim

  3. Department of Obstetrics and Gynecology, Maternal & Child Health Centre Unit-II, Pakistan Institute of Medical Sciences, Islamabad, Pakistan

    Batool Mazhar & Bhawna Ratti

  4. Department of Obstetrics & Gynecology, American University of Beirut, P.O. Box 11-236, Beirut, Lebanon

    Muheiddine Seoud

  5. Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, 48109, Michigan, USA

    Rork Kuick & Samir Hanash

  6. Department of Obstetrics & Gynecology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India

    Rashmi Bagga

  7. Institut für Klinische Genetik, Mainz, 55131, Germany

    Renate Kircheisen

  8. Center for the Study of Brain Diseases, Notre Dame Hospital, Montreal, H2L 4M1, Canada

    Guy A Rouleau

Authors
  1. Sharlene Murdoch
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  2. Ugljesa Djuric
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  8. Renate Kircheisen
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  9. Asangla Ao
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  10. Bhawna Ratti
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  11. Samir Hanash
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  12. Guy A Rouleau
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  13. Rima Slim
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Corresponding author

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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