Analysis of CASR gene variant in a child with idiopathic epilepsy and autism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 309-311, 2022.
Article
en Zh
| WPRIM
| ID: wpr-928408
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring idiopathic epilepsy and autism.@*METHODS@#Peripheral blood samples of the child and his parents were collected with informed consent for the extraction of genome DNA. Whole exome sequencing was carried out for the family trio. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The proband was found to harbor a heterozygous nonsense c.3025C>T (p.Arg1009Ter) variant in exon 7 of the CASR gene exon 7, which may produce a truncated protein. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be deleterious and classified as possibly pathogenic (PVS1+PM2).@*CONCLUSION@#The c.3025C>T (p.Arg1009Ter) variant of the CASR gene probably underlay the disease in this child.
Texto completo:
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Índice:
WPRIM
Asunto principal:
Trastorno Autístico
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Exones
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Receptores Sensibles al Calcio
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Epilepsia
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Secuenciación del Exoma
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Heterocigoto
Límite:
Child
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Article