HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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

AbstractOBJECTIVES:
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.
AuthorsMeropi Toumba, Vassos Neocleous, Christos Shammas, Violetta Anastasiadou, Jeremy Allgrove, Leonidas A Phylactou, Nicos Skordis
JournalJournal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 26 Issue 11-12 Pg. 1189-95 ( 2013) ISSN: 2191-0251 [Electronic] Germany
PMID23846138 (Publication Type: Journal Article)
Chemical References
  • Transforming Growth Factor beta1
Topics
  • Adolescent
  • Bone and Bones (diagnostic imaging, metabolism)
  • Camurati-Engelmann Syndrome (genetics, metabolism)
  • Endocrine Glands (metabolism)
  • Female
  • Humans
  • Mutation, Missense
  • Radiography
  • Transforming Growth Factor beta1 (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: