Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia.
- VernacularTitle:六例瓜氨酸血症患儿的ASS1、ASL和SLC25A13基因突变分析
- Author:
Yiming LIN
1
;
Ke YU
;
Lufeng LI
;
Zhenzhu ZHENG
;
Weihua LIN
;
Qingliu FU
Author Information
- Publication Type:Journal Article
- MeSH: Argininosuccinate Lyase; genetics; Argininosuccinate Synthase; genetics; Citrullinemia; genetics; DNA Mutational Analysis; Female; Humans; Infant; Infant, Newborn; Male; Mitochondrial Membrane Transport Proteins; genetics; Mutation
- From: Chinese Journal of Medical Genetics 2017;34(5):676-679
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutations in six patients with citrullinemia.
METHODSGenomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing.
RESULTSOne patient was diagnosed with argininosuccinate lyase deficiency, and has carried a homozygous c.1311T>G (p.Y437*) mutation of the ASL gene. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A], [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and [c.851-854delGTAT+c.1638-1660dup23]. Among these, the c.1311T>G mutation was first identified in the Chinese population, and the IVS6-11A>G mutation was a novel variation which may affect the splicing, as predicted by Human Splicing Finder software.
CONCLUSIONThis study has confirmed the molecular diagnosis of citrullinemia in six patients and expanded the mutational spectrum underlying citrullinemia.
