Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia.
- Author:
Jie LI
1
;
Peiwen XU
;
Sexin HUANG
;
Ming GAO
;
Yang ZOU
;
Ranran KANG
;
Yuan GAO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; DNA Mutational Analysis; Exons; Familial Hypophosphatemic Rickets; genetics; Female; Genetic Diseases, X-Linked; genetics; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; PHEX Phosphate Regulating Neutral Endopeptidase; genetics; Pedigree; RNA Splicing; Young Adult
- From: Chinese Journal of Medical Genetics 2017;34(2):216-219
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).
METHODSPCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.
RESULTSA splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.
CONCLUSIONThe 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.
