지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 234 - 238 (5page)
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초록· 키워드
오류제보하기
Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any of the EIF2B1-5 genes. Any dysfunction of the EIF2B1-5 gene encoded eIF2B causes stress-provoked episodic rapid neurological deterioration in the patient, followed by a chronic progressive disease course. We present the case of a patient with an infantile-onset VWM with the pre-described specific clinical course, subsequent neurological aggravation induced by each viral infection, and the noted consequent progression into a comatose state. Although the initial brain magnetic resonance imaging did not reveal specific pathognomonic signs of VWM to distinguish it from other types of demyelinating leukodystrophy, the next-generation sequencing studies identified heterozygous missense variants in EIF2B3, including a novel variant in exon 7 (C706G), as well as a 0.008% frequency reported variant in exon 2 (T89C). Hence, the characteristic of unbiased genomic sequencing can clinically affect patient care and decision-making, especially in terms of the consideration of genetic disorders such as leukoencephalopathy in pediatric patients.
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등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
van der Knaap MS / 2006 / Vanishing white matter disease / Lancet Neurol 5:413~423
van der Knaap MS / 2002 / Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter / Ann Neurol 51:264~270
Fogli A / 2004 / Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients / Eur J Hum Genet 12:561~566
Pronk JC / 2006 / Vanishing white matter disease : a review with focus on its genetics / Ment Retard Dev Disabil Res Rev 12:123~128
오자영 / 2016 / Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report / Annals of Rehabilitation Medicine 40(6):1129~1134
van der Knaap MS / 2002 / Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter / Ann Neurol 51:264~270
Fogli A / 2004 / Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients / Eur J Hum Genet 12:561~566
Pronk JC / 2006 / Vanishing white matter disease : a review with focus on its genetics / Ment Retard Dev Disabil Res Rev 12:123~128
오자영 / 2016 / Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report / Annals of Rehabilitation Medicine 40(6):1129~1134
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