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
Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, INSERM, ULP, Illkirch, France.
Eur J Hum Genet. 1999 Jul;7(5):615-9. doi: 10.1038/sj.ejhg.5200341.
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.
报告了30个新发现的PHEX基因突变，并将其与之前发表的所有突变汇总。突变谱显示16%为缺失突变，8%为插入突变，34%为错义突变，27%为无义突变，15%为剪接位点突变，在外显子15和17有两个峰值。由于32.8%的PHEX氨基酸在内肽酶家族中保守，在非保守残基处检测到的错义突变数量低于预期，而在非保守残基处观察到的无义突变数量非常接近预期数量。与保守氨基酸相比，非保守氨基酸的变化可能导致良性多态性或可能未被诊断的轻度疾病。
