X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gen

• Authors: E. Popowska , Pronicka E. Pronicka , E. Pronicka , Sulek A. Sulek , A. Sulek , Jurkiewicz D. Jurkiewicz , D. Jurkiewicz , Rowe P. Rowe , P. Rowe , Rowinska E. Rowinska , E. Rowinska , Krajewska-Walasek M. Krajewska-Walasek , M. Krajewska-Walasek
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

DELETION   HYPOPHOSPHATEMIA   INSERTION   PHEX GENE MUTATION   SUBSTITUTION  

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2000
• Volume: 41
• Issue: 4
• Pages: 293-302
• Document Type: ARTICLE
• Publication order reference: E. Popowska, Department of Medical Genetics, Children?s Memorial Health Institute, Al. Dzieci Polskich 20, 04-736 Warszawa, Poland, e-mail: [e-mail]