title: Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature.
abstract: Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive metabolic disorder caused by mutations in the GALNT3 and FGF23 genes. The main features of this disorder include painful swelling of long bones, increased renal reabsorption of phosphate but normal renal function and vitamin D and parathormone levels. Previously, we reported a novel missense mutation in the FGF23 gene in a patient suffering from HHS. In the present report, we demonstrated the same mutation (c.471C>A) in two other cases of HHS with similar clinical manifestations. As this nucleotide change has not been reported previously, it can be a population specific mutation in Iran that can facilitate carrier testing and prenatal diagnosis of HHS.
authors.forename: Soudeh
authors.initials: S
authors.lastname: Ghafouri-Fard
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Abbasi
authors.forename: Faezeh
authors.initials: F
authors.lastname: Azizi
authors.forename: Mona
authors.initials: M
authors.lastname: Javaheri
authors.forename: Mehrzad
authors.initials: M
authors.lastname: Mehdizadeh
authors.forename: Arya
authors.initials: A
authors.lastname: Setoodeh
mesh_terms: D000293:Adolescent; D002648:Child; D003241:Consanguinity; D005260:Female; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D015576:Hyperostosis / Q000453:epidemiology / Q000235:genetics*; D054559:Hyperphosphatemia / Q000453:epidemiology / Q000235:genetics*; D007492:Iran / Q000453:epidemiology; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: C000717427:FGF23 protein, human; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23