title: A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands.
abstract: OBJECTIVE
  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.
  
  
  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.
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: D019943:Amino Acid Substitution; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001842:Bone and Bones / Q000187:drug effects / Q000378:metabolism*; D002136:Calcium, Dietary / Q000627:therapeutic use; D003966:Camurati-Engelmann Syndrome / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D002648:Child; D003131:Combined Modality Therapy; D019587:Dietary Supplements; D004702:Endocrine Glands / Q000187:drug effects / Q000378:metabolism*; D005091:Exons; D005192:Family Health; D005220:Fathers; D005260:Female; D006801:Humans; D006966:Hyperprolactinemia / Q000209:etiology / Q000517:prevention & control; D008599:Menstruation Disturbances / Q000209:etiology / Q000517:prevention & control; D059352:Musculoskeletal Pain / Q000209:etiology / Q000517:prevention & control; D020125:Mutation, Missense; D011241:Prednisone / Q000627:therapeutic use; D053773:Transforming Growth Factor beta1 / Q000235:genetics* / Q000378:metabolism; D016896:Treatment Outcome; D014807:Vitamin D / Q000627:therapeutic use
chemical_list: D000893:Anti-Inflammatory Agents; D002136:Calcium, Dietary; C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1; D014807:Vitamin D; D011241:Prednisone