Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 166-169, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879547
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of a child suspected for β-ketothiolase deficiency by neonatal screening.@*METHODS@#All coding exons and flanking sequences of the ACAT1 gene were subjected to targeted capture and high-throughput sequencing. Suspected variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child was found to harbor compound heterozygous variants of the ACAT1 gene, namely c.121-3C>G and c.275G>A (p. Gly92Asp). The c.121-3C>G variant was also detected in his father and two sisters, while the c.275G>A (p. Gly92Asp) was a de novo variant. A c.334+ 172C>G (rs12226047) polymorphism was also detected in his mother and two sisters. Sanger sequencing has verified that the c.275G>A (p. Gly92Asp) and c.334+172C>G (rs12226047) variants are located on the same chromosome. Bioinformatics analysis suggested both c.121-3C>G and c.275G>A (p.G92D) variants to be damaging. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.275G>A variant of the ACAT1 gene was predicted to be pathogenic (PS2+ PM2+ PM3+ PP3+PP4), the c.121-3C>G variant to be likely pathogenic (PM2+ PM3+ PP3+PP4).@*CONCLUSION@#The c.121-3C>G and c.275G>A variants of the ACAT1 gene probably underlay the pathogenesis of the child. Above finding has enriched the variant spectrum of the ACAT1 gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Acetil-CoA C-Acetiltransferase
/
Acetil-CoA C-Aciltransferase
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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