Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets.
- Author:
Zhaotang LUAN
1
;
Huanzheng LI
;
Lin HU
;
Chong CHEN
;
Xueqin XU
;
Yanbao XIANG
;
Shaohua TANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; DNA Mutational Analysis; Exome; Familial Hypophosphatemic Rickets; diagnosis; genetics; Female; Humans; Microsatellite Repeats; Mutation; PHEX Phosphate Regulating Neutral Endopeptidase; genetics; Pregnancy; Prenatal Diagnosis; Whole Genome Sequencing
- From: Chinese Journal of Medical Genetics 2017;34(5):633-636
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the clinical characteristics and genetic mutation in a family affected with hypophosphatemic rickets.
METHODSWhole exome sequencing (WES) was used to screen potential mutations in genomic DNA extracted from peripheral venous blood sample from the proband. Suspected mutation was confirmed with Sanger sequencing. Amniotic fluid was sampled from the proband for prenatal diagnosis. Potential maternal contamination was excluded by analysis of short tandem repeat (STR) markers.
RESULTSWES has identified a heterozygous c.2058_2059insAGTT (p.L686fs) mutation of the PHEX gene in the proband, which was confirmed by Sanger sequencing in other affected individuals from the family. The mutation was detected in the amniotic fluid sample from the fetus but not among healthy members from the family.
CONCLUSIONIdentification of the PHEX mutation by WES has facilitated genetic counseling and prenatal diagnosis for the family affected with hypophosphatemic rickets.
