A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Objectives: Camurati-Engelmann disease (CED) is a rare form of progressive bone dysplasia due to mutations in the transforming factor gene TGFB1 on chromosome 19q13.1- q13.3. Endocrine complications such as osteoporosis, vitamin D deficiency, delayed puberty and hypogonadotrophic hypogonadism may be present. Methods and results: Genetic analysis of the TGFB1 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. The patient responded well to prednisone 5 mg/kg per day as well as calcium and vitamin D supplements. Conclusions: The role of p.R218C in TGFB1 on the mechanism of the disease itself and the complications of it in bones and endocrine glands remain unclear. Early recognition as well as a detailed understanding of the pathogenesis of the disease is important for future treatment options and better quality of life of such patients.

Original languageEnglish
Pages (from-to)987-993
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Volume26
Issue number9-10
DOIs
Publication statusPublished - Oct 2013

Keywords

  • Bone
  • Camurati-Engelmann
  • Dysplasia
  • TGFB1

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