지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 1,149 - 1,155 (7page)
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초록· 키워드
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Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.
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등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Basel-Vanagaite L / 2013 / SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum / Am J Hum Genet 93:524~529
Brunklaus A / 2015 / Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families / Eur J Paediatr Neurol 19:484~488
Falcone M / 2013 / An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability / PLoS ONE 8(12):e82810
Frankel W / 2009 / Szt2, a novel gene for seizure threshold in mice / Genes Brain Behav 8(5):568~576
Kasperaviciute D / 2010 / Common genetic variation and susceptibility to partial epilepsies a genomewide association study / Brain 133:2136~2147
Brunklaus A / 2015 / Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families / Eur J Paediatr Neurol 19:484~488
Falcone M / 2013 / An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability / PLoS ONE 8(12):e82810
Frankel W / 2009 / Szt2, a novel gene for seizure threshold in mice / Genes Brain Behav 8(5):568~576
Kasperaviciute D / 2010 / Common genetic variation and susceptibility to partial epilepsies a genomewide association study / Brain 133:2136~2147
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