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[Clinical features and genetic analysis of a child with EAST/SeSAME syndrome]
Guangyu Zhang1, Mingmei Wang, Gongxun Chen
1Department of Pediatric Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. zhudengna@126.com.
Insights
Genetic testing identified compound heterozygous KCNJ10 gene variants in a child with EAST/SeSAME syndrome, confirming the genetic basis for epilepsy, ataxia, deafness, and intellectual disability.
Area of Science:
- Genetics
- Molecular Biology
- Neurology
Context:
- EAST/SeSAME syndrome is a rare genetic disorder.
- The syndrome presents with a complex array of neurological and developmental issues.
- Accurate genetic diagnosis is crucial for understanding and managing the condition.
Purpose:
- To investigate the genetic underpinnings of EAST/SeSAME syndrome in a pediatric patient.
- To identify specific gene variants responsible for the observed clinical phenotype.
- To confirm the diagnosis through molecular genetic analysis.
Summary:
- Whole exome sequencing was performed on a child diagnosed with EAST/SeSAME syndrome and her parents.
- The analysis revealed compound heterozygous variants in the KCNJ10 gene: c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn).
- These variants, inherited from both parents, were classified as likely pathogenic according to ACMG guidelines, confirming the diagnosis.
Impact:
- Establishes a definitive genetic diagnosis for the patient.
- Contributes to the understanding of KCNJ10 gene mutations in EAST/SeSAME syndrome.
- Highlights the utility of whole exome sequencing in diagnosing rare genetic disorders.
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.
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