Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 139-142, 2022.
Article
em Zh
| WPRIM
| ID: wpr-928376
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the characteristics of SLC25A13 gene variants in 16 infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).@*METHODS@#The infants were subjected to high-throughput DNA sequencing for coding exons and flanking regions of the target genes. Suspected variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Among the 16 NICCD cases, 15 were found to harbor pathogenic variants. Among these, IVS14-9A>G, c.1640G>A, c.762T>A, c.736delG, c.1098Tdel and c.851G>A were previously unreported.@*CONCLUSION@#Six novel SLC25A13 variants were found by high-throughput sequencing, which has enriched the spectrum of SLC25A13 gene variants and provided a basis for genetic counseling and prenatal diagnosis.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Deficiência de Proteína
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Proteínas de Ligação ao Cálcio
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Colestase Intra-Hepática
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Citrulinemia
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Transportadores de Ânions Orgânicos
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Proteínas de Transporte da Membrana Mitocondrial
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Mutação
Limite:
Humans
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Infant
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Newborn
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Article