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Updated: Apr 23, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases]
Jiao Rao1, Guohong Zeng1, Shushui Wang1
1Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Cardiovascular Institute, Guangzhou 510080, China.
Objective:
To investigate the mutation and background of SLC22A5 in 6 patients with primary carnitine deficiency (PCD) who only presented as cardiomyopathy.
Method:
Genomic 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.
Result:
Three 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.
Conclusion:
R254X, R289X and C113Y might be associated with primary carnitine deficiency.
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