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

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

Research output: Contribution to journalArticle

3 Citations (Scopus)

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 - 2014
Externally publishedYes

Fingerprint

Mutation
Cilia
Portal System
Centrosome
Genetic Testing
Biliary Tract
Missense Mutation
Kidney
Genes
Ciliopathies
1,7,9,11-tetrahydroxy-3-methyl-8,13-dioxo-5,6,8,13-tetrahydrobenzo(a)tetracene-2-carboxylic acid

Keywords

  • ciliopathy
  • nephronophthisis
  • NPHP3
  • polycystic kidney disease

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. / Leeman, K. T.; Dobson, L.; Towne, M.; Dukhovny, Dmitry; Joshi, M.; Stoler, J.; Agrawal, P. B.

In: Journal of Perinatology, Vol. 34, No. 5, 2014, p. 410-411.

Research output: Contribution to journalArticle

Leeman, K. T. ; Dobson, L. ; Towne, M. ; Dukhovny, Dmitry ; Joshi, M. ; Stoler, J. ; Agrawal, P. B. / NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. In: Journal of Perinatology. 2014 ; Vol. 34, No. 5. pp. 410-411.
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