title: A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS).
abstract: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive metabolic disorder, characterized by recurrent painful swelling of long bones, periosteal new bone formation and cortical hyperostosis or intramedullary sclerosis, hyperphosphatemia and low intact fibroblast growth factor 23 (FGF23) protein levels. It is caused by mutations in 2 genes, N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) and FGF23. We have performed mutation analysis of the GALNT3 and FGF23 genes in a patient with HHS and detected a homozygous mutation in exon 3 of FGF23 gene (NM_020638.2: c.471C>A) which results in amino acid change from phenylalanine 157 to leucin (p.F157L) in receptor interaction site.
authors.affiliation: Growth and Development Research Center, Children Medical Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Abbasi
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran. Electronic address: ghafourifard@razi.tums.ac.ir.
authors.forename: Soudeh
authors.initials: S
authors.lastname: Ghafouri-Fard
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
authors.forename: Mona
authors.initials: M
authors.lastname: Javaheri
authors.affiliation: Growth and Development Research Center, Children Medical Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Dideban
authors.affiliation: Growth and Development Research Center, Children Medical Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ayoub
authors.initials: A
authors.lastname: Ebrahimi
authors.affiliation: Biosensor Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran; Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Azadeh
authors.initials: A
authors.lastname: Ebrahim-Habibi
mesh_terms: D019943:Amino Acid Substitution; D002675:Child, Preschool; D003198:Computer Simulation; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000737:chemistry / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D015576:Hyperostosis / Q000235:genetics*; D054559:Hyperphosphatemia / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics; D011487:Protein Conformation; D000097763:Polypeptide N-acetylgalactosaminyltransferase
chemical_list: D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors; D017350:N-Acetylgalactosaminyltransferases; D000097763:Polypeptide N-acetylgalactosaminyltransferase; C000717427:FGF23 protein, human