Analysis of PHEX gene variant and prenatal diagnosis for a Chinese pedigree affected with X-linked hypophosphatemia.
10.3760/cma.j.cn511374-20201125-00827
- Author:
Peixuan CAO
1
;
Xiangyu ZHU
;
Jie LI
Author Information
1. Prenatal Diagnosis Center, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu 210008, China. jie1967@126.com.
- Publication Type:Journal Article
- MeSH:
China;
Familial Hypophosphatemic Rickets;
Female;
Humans;
Mutation;
PHEX Phosphate Regulating Neutral Endopeptidase/genetics*;
Pedigree;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(11):1136-1139
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect pathological variant in a Chinese pedigree affected with X-linked hypophosphatemia (XLH).
METHODS:Whole-exome sequencing was carried out to screen genetic variants in the proband and her parents. Candidate variant of the phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX) was verified by Sanger sequencing of all members of the pedigree and the 100 healthy controls. Prenatal diagnosis was carried out on chorionic villi sample derived from the fetus of the proband.
RESULTS:A c.1256G>A (p. Gly419Glu) variant was identified in the PHEX gene of the proband and all other patients from this pedigree. The same variant was not found among healthy members from this pedigree and the 100 healthy controls. Prenatal diagnosis suggested that the fetus also carried the c.1256G>A (p. Gly419Glu) variant.
CONCLUSION:The c.1256G>A (p. Gly419Glu) variant of the PHEX gene probably underlay the pathogenesis of XLH in this family. Discovery of the novel variant has enriched the mutational spectrum of the PHEX gene.
