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.
Article
in Zh
| WPRIM
| ID: wpr-879547
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Acetyl-CoA C-Acetyltransferase
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Acetyl-CoA C-Acyltransferase
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High-Throughput Nucleotide Sequencing
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Amino Acid Metabolism, Inborn Errors
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Mutation
Type of study:
Prognostic_studies
Limits:
Female
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Humans
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Male
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Newborn
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article