Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 35-39, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-345330
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutations of SLC22A5 gene in patients with systemic primary carnitine deficiency (CDSP).</p><p><b>METHODS</b>High 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.</p><p><b>RESULTS</b>Total 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).</p><p><b>CONCLUSION</b>This 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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Base Sequence
/
Carnitine
/
Reproducibility of Results
/
Sensitivity and Specificity
/
Amino Acid Sequence
/
Sequence Homology, Amino Acid
/
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
/
Hyperammonemia
/
Organic Cation Transport Proteins
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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