A family with Camurati-Engelman disease: The role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands

Meropi Toumba, Vassos Neocleous, Christos Shammas, Violetta Anastasiadou, Jeremy Allgrove, Leonidas A. Phylactou, Nicos Skordis

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

Objectives: Camurati-Engelmann disease (CED) is a rare form of progressive diaphyseal dysplasia as a result of mutations in the transforming growth factor gene TGFbeta1 on chromosome 19q13.1-q13.3. Endocrine complications such as osteoporosis, vitamin D deficiency, delayed puberty, and hypogonadotrophic hypogonadism may be present. Methods: Genetic analysis of the TGFbeta1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia, and menstrual irregularity. Results: The patient responded well to prednisone 5 mg/kg/day, as well as calcium and vitamin D supplements. Conclusions: The role of p.R218C in TGFbeta1 on the mechanism of the disease, and the complications of it in bones and endocrine glands, remains unclear. Early recognition as well as a detailed understanding of the pathogenesis of the disease are important for future treatment options and a better quality of life of such patients.

Original languageEnglish
Pages (from-to)1189-1195
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Volume26
Issue number11-12
DOIs
Publication statusPublished - Nov 2013

Keywords

  • Bone
  • Camurati-Engelmann
  • Dysplasia
  • TGFb

Fingerprint

Dive into the research topics of 'A family with Camurati-Engelman disease: The role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands'. Together they form a unique fingerprint.

Cite this