title: A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands.
abstract: OBJECTIVE
  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.
authors.forename: Meropi
authors.initials: M
authors.lastname: Toumba
authors.forename: Vassos
authors.initials: V
authors.lastname: Neocleous
authors.forename: Christos
authors.initials: C
authors.lastname: Shammas
authors.forename: Violetta
authors.initials: V
authors.lastname: Anastasiadou
authors.forename: Jeremy
authors.initials: J
authors.lastname: Allgrove
authors.forename: Leonidas A
authors.initials: LA
authors.lastname: Phylactou
authors.forename: Nicos
authors.initials: N
authors.lastname: Skordis
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000378:metabolism*; D003966:Camurati-Engelmann Syndrome / Q000235:genetics* / Q000378:metabolism; D004702:Endocrine Glands / Q000378:metabolism*; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D011859:Radiography; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1