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  • Title: Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
    Author: Tyynismaa H, Kaitila I, Näntö-Salonen K, Ala-Houhala M, Alitalo T.
    Journal: Hum Mutat; 2000 Apr; 15(4):383-4. PubMed ID: 10737991.
    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).
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