Diagnosis of two neonates with galactosemia by using next generation sequencing.
- VernacularTitle:两例新生儿经典型半乳糖血症的基因突变分析
- Author:
Haiyan ZHANG
1
;
Dong CHEN
;
Chen LIU
;
Xingfeng LIU
;
Zhongtao GAI
;
Yi LIU
Author Information
- Publication Type:Case Reports
- MeSH: Female; Galactosemias; diagnosis; Heterozygote; High-Throughput Nucleotide Sequencing; methods; Humans; Infant, Newborn; Male; Mutation; UTP-Hexose-1-Phosphate Uridylyltransferase; genetics
- From: Chinese Journal of Medical Genetics 2018;35(2):248-252
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic basis of two neonates suspected for galactosemia.
METHODSNext generation sequencing(NGS) was used to screen the whole exome of the neonates. Suspected mutation was validated by PCR and Sanger sequencing. Potential impact of novel mutation was predicted by using PolyPhen-2, MutationTaste and SIFT software.
RESULTSBoth neonates harbored compound heterozygous mutations of the GALT gene inherited from their parents. One has inherited two novel mutations c.564G>C(p.Q188H) and c.116A>T(p.D39V) respectively from his father and mother. The other has inherited mutations c.754C>T(p.Q252X) and c.904+1G>T from her father and mother, respectively.
CONCLUSIONThe galactosemia in the two neonates may be attributed to compound heterozygous mutations of the GALT gene. This is the first domestic report of using the NGS for the diagnosis of galactosemia.
