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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings

Journal of Perinatology volume 34, pages 410–411 (2014)Cite this article

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Abstract

Two siblings with a severe multiorgan polycystic disease presenting in the neonatal period were identified. Their genetic testing identified compound heterozygous NPHP3 gene mutations, parents being heterozygous carriers. The mutations included a splice-site (c.958-2A>G) and a missense mutation (c.2342G>A; p.G781D), both being extremely rare. NPHP3 encodes for nephrocystin 3 present on the cilia-centrosome complex. We hypothesize that these mutations lead to defective cilia-based signaling, required for normal development of the renal, pancreatic, biliary and portal system. This report outlines a rare neonatal ciliopathy presentation of NPHP3 mutations leading to severe multiorgan failure in two siblings.

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Acknowledgements

This work was funded by a grant from The Manton Center for Orphan Disease Research.

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Authors and Affiliations

  1. Division of Newborn Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    K T Leeman, M Joshi & P B Agrawal

  2. Harvard Stem Cell Institute, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    K T Leeman

  3. The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    K T Leeman, M Towne, M Joshi & P B Agrawal

  4. Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    L Dobson, M Towne, M Joshi, J Stoler & P B Agrawal

  5. Division of Neonatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA

    D Dukhovny

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  1. K T Leeman
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  2. L Dobson
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  3. M Towne
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  5. M Joshi
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  6. J Stoler
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  7. P B Agrawal
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Correspondence to K T Leeman or P B Agrawal.

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Leeman, K., Dobson, L., Towne, M. et al. NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. J Perinatol 34, 410–411 (2014). https://doi.org/10.1038/jp.2014.20

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