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
en Zh
| WPRIM
| ID: wpr-928376
Biblioteca responsable:
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
Base de datos:
WPRIM
Asunto principal:
Deficiencia de Proteína
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Proteínas de Unión al Calcio
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Colestasis Intrahepática
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Citrulinemia
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Transportadores de Anión Orgánico
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Proteínas de Transporte de Membrana Mitocondrial
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Mutación
Límite:
Humans
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Infant
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Newborn
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Article