title: Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
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.
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, INSERM, ULP, Illkirch, France.
authors.forename: D
authors.initials: D
authors.lastname: Filisetti
authors.forename: G
authors.initials: G
authors.lastname: Ostermann
authors.forename: M
authors.initials: M
authors.lastname: von Bredow
authors.forename: T
authors.initials: T
authors.lastname: Strom
authors.forename: G
authors.initials: G
authors.lastname: Filler
authors.forename: J
authors.initials: J
authors.lastname: Ehrich
authors.forename: S
authors.initials: S
authors.lastname: Pannetier
authors.forename: J M
authors.initials: JM
authors.lastname: Garnier
authors.forename: P
authors.initials: P
authors.lastname: Rowe
authors.forename: F
authors.initials: F
authors.lastname: Francis
authors.forename: A
authors.initials: A
authors.lastname: Julienne
authors.forename: A
authors.initials: A
authors.lastname: Hanauer
authors.forename: M J
authors.initials: MJ
authors.lastname: Econs
authors.forename: C
authors.initials: C
authors.lastname: Oudet
mesh_terms: D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D016366:Open Reading Frames; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human