Non-random distribution of mutations in the PHEX gene, end under-detected missense mutations at non-conserved residues

D. Filisetti, G. Ostermann, M. Von Bredow, T. Strom, G. Filler, J. Ehrich, S. Pannetier, J. M. Garnier, P. Rowe, F. Francis, A. Julienne, A. Hanauer, M. J. Econs, C. Oudet

Research output: Contribution to journalArticle

49 Scopus citations

Abstract

Thirty newly detected mutations in the PHEX gene are reported, and pooled with all the previously published mutations. The spectrum of mutations displayed 16% deletions, 8% insertions, 34% missense, 27% nonsense, and 15% splice site mutations, with two peaks in exon 15, and 17. Since 32.8% of PHEX amino acids were conserved in the endopeptidases family, the number of missense mutations detected at non-conserved residues was smaller than expected, whereas the number of nonsense mutations observed at non-conserved residues was very close to the expected number. Compared with conserved amino acids, the changes in non-conserved amino acids may result in benign polymorphisms or possibly mild disease that may go undiagnosed.

Original languageEnglish (US)
Pages (from-to)615-619
Number of pages5
JournalEuropean Journal of Human Genetics
Volume7
Issue number5
DOIs
StatePublished - Jan 1 1999
Externally publishedYes

Keywords

  • HYP phenotype
  • Mutation distribution
  • Vitamin D endopeptidase
  • X-linked hypophosphataemia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Filisetti, D., Ostermann, G., Von Bredow, M., Strom, T., Filler, G., Ehrich, J., Pannetier, S., Garnier, J. M., Rowe, P., Francis, F., Julienne, A., Hanauer, A., Econs, M. J., & Oudet, C. (1999). Non-random distribution of mutations in the PHEX gene, end under-detected missense mutations at non-conserved residues. European Journal of Human Genetics, 7(5), 615-619. https://doi.org/10.1038/sj.ejhg.5200341