[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].

The novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.