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A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene

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FRONTIERS IN PEDIATRICS
卷 11, 期 -, 页码 -

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FRONTIERS MEDIA SA
DOI: 10.3389/fped.2023.985720

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primary carnitine deficiency; cardiomyopathy; gene; pediatrics

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The clinical characteristics and disease outcomes of a pedigree with compound heterozygous mutations in the SLC22A5 gene were investigated. Serum acylcarnitine profiles were analyzed using tandem mass spectrometry, and high-throughput sequencing was performed on DNA samples from patients and their first-degree relatives. The study found that both patients carried compound heterozygous mutations in the SLC22A5 gene, inherited from their mother and father, respectively. Early L-carnitine supplementation significantly improved or resolved clinical symptoms. The study suggests that compound mutations in SLC22A5 can lead to different clinical manifestations, especially at different ages.
IntroductionTo investigate the clinical characteristics and disease outcomes of a pedigree with compound heterozygous mutations in the SLC22A5 gene. MethodsSerum acylcarnitine profiles of patients were analyzed using tandem mass spectrometry. DNA samples isolated from patients and their first-degree relatives were subjected to high-throughput sequencing, and mutations were validated using Sanger sequencing. ResultsThe proband, a 4-month-old girl, presented with seizure episodes and mild cardiac hypertrophy and was diagnosed with primary carnitine deficiency (PCD), with carnitine levels of 5.165 mol/L. Her brother, a 6-year-and 4-month-old boy, was also diagnosed with PCD with serum-free carnitine levels of 1.014 mol/L (reference values 10-60 mol/L). Compound heterozygous mutations (c.760C > T [p.R254X] and c.825G > A [p.W275X]) were detected in the SLC22A5 gene in both patients and were inherited from the mother and father, respectively. Oral L-carnitine significantly improved or resolved the clinical symptoms. ConclusionChildren with compound mutations in SLC22A5 may present different clinical manifestations, particularly at different ages. Early clinical manifestations have a greater impact on the organs and may cause irreversible damage. PCD can cause epilepsy and dilated cardiomyopathy. Tandem mass spectrometry and high-throughput sequencing are recommended to confirm the diagnosis. Early L-carnitine supplementation can improve symptoms and reverse organ damage in some children. Tandem mass spectrometry should be used to screen for newborns with a family history of PCD.

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