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Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

✍ Scribed by Henna Tyynismaa; Ilkka Kaitila; Kirsti Näntö-Salonen; Marja Ala-Houhala; Tiina Alitalo

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
22 KB
Volume
15
Category
Article
ISSN
1059-7794

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✦ Synopsis

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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