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

K. T. Leeman, L. Dobson, M. Towne, D. Dukhovny, M. Joshi, J. Stoler, P. B. Agrawal

Research output: Contribution to journalArticle

4 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)410-411
Number of pages2
JournalJournal of Perinatology
Volume34
Issue number5
DOIs
StatePublished - May 2014
Externally publishedYes

Keywords

  • NPHP3
  • ciliopathy
  • nephronophthisis
  • polycystic kidney disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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