A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

Figure 2

Mutation analyses. (a) PHEX mutation analysis in the patient’s family. A missense mutation in exon 9 (c.947G>T; p.Gly316Val) of the patient was heterozygous. Her father, who exhibited short stature, carried the same mutation. Her mother has no mutation. (b) Restriction enzyme analysis. PCR products of PHEX exon 9 were digested with Acc I and separated on a 4% agarose gel. The wild-type PCR product (233 bp) lacks the restriction site, but the c.947G>T mutation introduces an Acc I site enabling the digestion of the product into 177 and 56 bp fragments. This analysis confirmed that the patient was heterozygous for the mutant and normal alleles and that her father also carried the mutant allele. The frequency of the mutation in 200 unrelated Japanese volunteers (100 were male and 100 were female; a total of 300 X chromosomes) was shown to be 0.33% (1/300).

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