title: Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
abstract: We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia. A total of 100% (5/5) of the familial HYP patients (X-linked hypophosphatemia) and 93% (14/15) of the sporadic cases were found to carry a mutation in the PHEX gene. We identified 18 mutations, of which 15 were novel. We report also a new polymorphism 46bp upstream of exon 16. Two families were segregating the same nonsense mutation in exon 1 (R20X), but since this mutation has been previously reported in three independent studies, we consider it to be a mutational hotspot rather than a Finnish founder mutation. We did not find PHEX gene mutations in two additional hypophosphatemia families in which the mode of inheritance was other than X-linked dominant. Also, no mutation could be detected in a patient with suspected oncogenic osteomalacia (OHO).
authors.affiliation: Dept. Medical Genetics, University of Helsinki, Helsinki, Finland.
authors.forename: H
authors.initials: H
authors.lastname: Tyynismaa
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
authors.forename: K
authors.initials: K
authors.lastname: Näntö-Salonen
authors.forename: M
authors.initials: M
authors.lastname: Ala-Houhala
authors.forename: T
authors.initials: T
authors.lastname: Alitalo
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005387:Finland; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010018:Osteomalacia / Q000235:genetics; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; D011110:Polymorphism, Genetic / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D011859:Radiography; D016896:Treatment Outcome
chemical_list: D011506:Proteins; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human