A novel SLC25A13 variant and the resultant aberrant transcript identified in a pedigree affected with citrin deficiency.
10.3760/cma.j.issn.1003-9406.2019.02.005
- VernacularTitle:一个希特林缺陷病家系SLC25A13基因的新剪接位点变异及异常转录子
- Author:
Mei DENG
1
;
Ying CHENG
;
Sainan SHU
;
Zhihua HUANG
;
Yuanzong SONG
Author Information
1. Department of Pediatrics, the First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, China. songyuanzong@vip.tom.com.
- Publication Type:Case Reports
- MeSH:
Base Sequence;
Citrullinemia;
Female;
Humans;
Mitochondrial Membrane Transport Proteins;
genetics;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2019;36(2):116-119
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic features of an infant with citrin deficiency (CD).
METHODS:Clinical data of the patient was collected and analyzed. Genomic DNA was extracted from peripheral blood samples collected from the patient and her parents. Targeted exome sequencing was performed to explore the genetic cause, and Sanger sequencing was used to confirm the detected variants. SLC25A13 mRNA was extracted from peripheral blood lymphocytes of the infant. The effect of novel mutation of SLC25A13 was analyzed by reverse transcription-PCR, cDNA cloning and Sanger sequencing.
RESULTS:The SLC25A13 genotype of the patient was determined as c.845_c.848+1delG/c.1841+3_1841+4delAA, with the latter having not been reported. The mutation has affected the splicing of the SLC25A13 mRNA, giving rise to an aberrant transcript [r.1841_1842ins1841+1_1841+67; 1841+3_c.1841+4del].
CONCLUSION:A novel SLC25A13 mutation c.1841+3_1841+4delAA and the resultant abnormal splicing variant were discovered by combined DNA sequencing and cDNA cloning. The finding has enabled definite diagnosis of CD and enriched the spectrum of SLC25A13 mutations.
