Clinical features and genetic analysis of a child with EAST/SeSAME syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 838-841, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-981832
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability.@*METHODS@#A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4).@*CONCLUSION@#The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ataxia
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Perda Auditiva Neurossensorial
/
Deficiência Intelectual
/
Mutação
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Artigo
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