C-type natriuretic peptide and overgrowth

Renata Bocciardi, Roberto Ravazzolo

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

Natriuretic peptides are a family of structurally related peptides with different distinct biological effects. C-type natriuretic peptide (CNP)-mediated signaling is important for endochondral ossifica-tion and intervenes in the control of chondrocyte maturation by regulating the balance between proliferation and terminal differentiation. CNP is encoded by the NPPC gene on human chromosome 2 for which, so far, no mutations have been described in humans. Recently, two independent articles reported the description of 3 patients with a similar clinical phenotype characterized by the pres-ence of skeletal anomalies and overgrowth. In all 3 cases, the clinical picture was associated with the presence of a balanced translocation involving chromosome 2 and causing overexpression of the NPPC gene and an increased plasma concentration of its product, CNP. Transcriptional dysregulation of NPPC has been ascribed to the separation of the gene unit from the long-range regulatory element with a transcriptional silencing effect on its expression and CNP overproduction has been correlated to the skeletal overgrowth phenotype observed.

Original languageEnglish
Title of host publicationEndocrine Development
Pages61-66
Number of pages6
Volume14
DOIs
Publication statusPublished - 2009

Publication series

NameEndocrine Development
Volume14
ISSN (Print)14217082
ISSN (Electronic)16622979

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health
  • Endocrine and Autonomic Systems

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