Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases.
- Author:
Qing RAN
1
;
Feng XIONG
;
Min ZHU
;
Lei-Li DENG
;
Pei-Yun LEI
;
Yan-Hong LUO
;
Yan ZENG
;
Gao-Hui ZHU
;
Cui SONG
Author Information
- Publication Type:Case Reports
- MeSH: Child; Child, Preschool; Familial Hypophosphatemic Rickets; genetics; Female; High-Throughput Nucleotide Sequencing; Humans; Male; Mutation; PHEX Phosphate Regulating Neutral Endopeptidase; genetics; Retrospective Studies
- From: Chinese Journal of Contemporary Pediatrics 2017;19(5):534-538
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology.
METHODSA retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families.
RESULTSBoth patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c.931dupC, which caused early termination of translation and produced the truncated protein p.Gln311Profs*13; the other patient had a splice site mutation, IVS14+1G>A, which caused the skipping of exon 15 and produced an incomplete amino acid chain. Their parents had normal gene phenotypes.
CONCLUSIONSc.931dupC and IVS14+1G>A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of XLH.
