Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases.
- Author:
Jiao RAO
1
;
Guohong ZENG
1
;
Shushui WANG
1
;
Zhiwei ZHANG
1
;
Yufen LI
2
;
Cheng ZHANG
1
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Base Sequence; Cardiomyopathies; genetics; Carnitine; deficiency; genetics; Child; Child, Preschool; DNA Mutational Analysis; Female; Genotype; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Hyperammonemia; genetics; Infant; Male; Muscular Diseases; genetics; Mutation; Organic Cation Transport Proteins; genetics; Pedigree; Solute Carrier Family 22 Member 5
- From: Chinese Journal of Pediatrics 2014;52(7):544-547
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutation and background of SLC22A5 in 6 patients with primary carnitine deficiency (PCD) who only presented as cardiomyopathy.
METHODGenomic DNA were abstracted from the blood of the patients and their parents. Using high-throughput sequencing to determine the mutation site.Using Sanger method to confirm the mutated alleles in PCD patients and detect the corresponding sequences in their patients. Using SIFT and PolyPhen to predict the function of protein for detected missense mutations.
RESULTThree different mutations were identified, including 2 nonsense mutations (R254X and R289X), 1 missense mutation (C113Y), R254X was the most frequently seen mutation. Four patients had compound heterozygous mutations and 2 patients had homozygous mutations. Their parents were found to have heterozygous mutations in corresponding alleles.
CONCLUSIONR254X, R289X and C113Y might be associated with primary carnitine deficiency.
