Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation
Journal of Bone and Mineral Metabolism, Volume 28, No. 1, Year 2010
Notification
URL copied to clipboard!
Description
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disease, characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. This syndrome involves rickets with bone deformities in childhood and osteomalacia, osteoporosis, articular and para-articular pain, and fatigue in adulthood. It is caused by mutations in a consensus sequence for proteolytic cleavage of the FGF23 protein. Normally, this protein actively regulates phosphate homeostasis. Here we report a Tunisian family in which one parent and three children show clinical and biological features of ADHR. Mutation analysis of the FGF23 gene finds a heterozygous substitution of the C at position 526 by a T (526 C → T), leading to an amino acid replacement of the FGF23 protein (R176W) at position 176. This causative new mutation is located in the consensus sequence for the proteolytic cleavage domain. These results confirm the importance of this site in FGF23 function and its essential role in ADHR physiopathology. © 2009 The Japanese Society for Bone and Mineral Research and Springer.
Authors & Co-Authors
Gribaa, Moez
Tunisia, Sousse
Hopital Farhat Hached Sousse
Younes, Mohamed K.
Tunisia, Monastir
Chu Fattouma-bourguiba
Bouyacoub, Yosra
Tunisia, Sousse
Hopital Farhat Hached Sousse
Korbâa, Wided
Tunisia, Monastir
Chu Fattouma-bourguiba
Ben Charfeddine, Ilhem
Tunisia, Sousse
Hopital Farhat Hached Sousse
Touzi, Mongi
Tunisia, Monastir
Chu Fattouma-bourguiba
Adala, Labiba
Tunisia, Sousse
Hopital Farhat Hached Sousse
Mamay, Ons
Tunisia, Sousse
Hopital Farhat Hached Sousse
Bergaoui, Naceur
Tunisia, Monastir
Chu Fattouma-bourguiba
Saâd, Ali
Tunisia, Sousse
Hopital Farhat Hached Sousse
Statistics
Citations: 50
Authors: 10
Affiliations: 2
Identifiers
Doi:
10.1007/s00774-009-0111-5
ISSN:
09148779
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases