Journal of Applied Genetics 41(4), 2000, pp. 293-302
X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene
Ewa POPOWSKA, Ewa PRONICKA, Anna SULEK, Dorota JURKIEWICZ, Peter ROWE, Elzbieta ROWINSKA, Malgorzata
Abstract: We present twenty-nine PHEX gene mutations extending our previous work, giving it to a total of 37
different mutations identified in Polish patients with familial or sporadic X-linked hypophosphatemia. Deletions,
insertions and nucleotide substitutions leading to frameshift (27%), stop codon (29%), splice site (24%), and
missense mutations (20%) were found. The mutations are distributed along the gene; exons 3, 4, 11, 12, 14, 15,
17, 20 and 22 are regions with the most frequent mutation events. Four mutations, P534L, G579R, R549X and
IVS15+1nt, recurred in three, four, two and three unrelated patients, respectively. They have also been
detected in affected persons from other countries. Twenty-eight mutations are specific for Polish population and
almost all of them are unique. Most of the identified mutations are expected to result in major changes in protein
structure and/or function.
Key words: deletion, insertion, PHEX gene mutation, substitution, X-linked hypophosphatemia.
Correspondence: E. Popowska, Department of Medical Genetics, Children�s Memorial Health Institute, Al.
Dzieci Polskich 20, 04-736 Warszawa, Poland, e-mail: firstname.lastname@example.org