Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 216-221, 2022.
Article
en Zh
| WPRIM
| ID: wpr-928393
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with succinate semialdehyde dehydrogenase deficiency.@*METHODS@#Peripheral blood samples of the proband and his parents were collected and subjected to Sanger sequencing. High-throughput sequencing was used to verify the gene variants. Bioinformatic software was used to analyze the pathogenicity of the variant sites.@*RESULTS@#Sanger sequencing showed that the proband carried a homozygous c.1529C>T (p.S510F) variant of the ALDH5A1 gene, for which his mother was a carrier. The same variant was not detected in his father. However, high-throughput sequencing revealed that the child and his father both had a deletion of ALDH5A1 gene fragment (chr6: 24 403 265-24 566 986).@*CONCLUSION@#The c.1529C>T variant of the ALDH5A1 gene and deletion of ALDH5A1 gene fragment probably underlay the disease in the child. High-throughput sequencing can detect site variation as well as deletion of gene fragment, which has enabled genetic diagnosis and counseling for the family.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Discapacidades del Desarrollo
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Succionato-Semialdehído Deshidrogenasa
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Errores Innatos del Metabolismo de los Aminoácidos
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Mutación
Límite:
Child
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Humans
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Infant
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Article