Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency.
- Author:
Yiming LIN
1
;
Weihua LIN
;
Ke YU
;
Faming ZHENG
;
Zhenzhu ZHENG
;
Qingliu FU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amino Acid Sequence; Base Sequence; Cardiomyopathies; diagnosis; genetics; metabolism; Carnitine; deficiency; genetics; metabolism; DNA Mutational Analysis; methods; Female; Gene Frequency; Genotype; Humans; Hyperammonemia; diagnosis; genetics; metabolism; Infant, Newborn; Male; Muscular Diseases; diagnosis; genetics; metabolism; Mutation; Organic Cation Transport Proteins; genetics; metabolism; Reproducibility of Results; Sensitivity and Specificity; Sequence Homology, Amino Acid; Solute Carrier Family 22 Member 5; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
- From: Chinese Journal of Medical Genetics 2017;34(1):35-39
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutations of SLC22A5 gene in patients with systemic primary carnitine deficiency (CDSP).
METHODSHigh liquid chromatography tandem mass spectrometry (HPLC/MS/MS) was applied to screen congenital genetic metabolic disease and eight patients with CDSP were diagnosed among 77 511 samples. The SLC22A5 gene mutation was detected using massarray technology and sanger sequencing. Using SIFT and PolyPhen-2 to predict the function of protein for novel variations.
RESULTSTotal detection rate of gene mutation is 100% in the eight patients with CDSP. Seven patients had compound heterozygous mutations and one patient had homozygous mutations. Six different mutations were identified, including one nonsense mutation [c.760C>T(p.R254X)] and five missense mutations[c.51C>G(p.F17L), c.250T>A(p.Y84N), c.1195C>T(p.R399W), c.1196G>A(p.R399Q), c.1400C>G(p.S467C)]. The c.250T>A(p.Y84N) was a novel variation, the novel variation was predicted to have affected protein structure and function. The c.760C>T (p.R254X)was the most frequently seen mutation, which was followed by the c.1400C>G(p.S467C).
CONCLUSIONThis study confirmed the diagnosis of eight patients with CDSP on the gene level. Six mutations were found in the SLC22A5 gene, including one novel mutation which expanded the mutational spectrum of the SLC22A5 gene.
