Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant
Year: 2024
Type: article
Study design: Case Report
Abstract: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the ACADVL gene. In December 2021, a neonate with VLCADD was identified via newborn screening in Xuzhou, China. Genetic testing and genetic family verification were performed via high-throughput sequencing combined with Sanger sequencing. The pathogenicity and functional impacts of novel variants were predicted using bioinformatics methods. Initial results obtained from tandem mass spectrometry blood screening were suggestive of VLCADD. Two compound heterozygous variants, c.753 T > G (p.S251R) and c.1276G > A (p.A426T), inherited from the father and mother, respectively, were detected in the ACADVL gene of this individual. The c.753 T > G variant is novel and unreported. These findings broaden the known mutational spectrum of the ACADVL gene in a Chinese population.
Institution: Maternal and Child Health Hospital of Xuzhou
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,410
OpenAlex ID: W4405830953