Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report
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 rapi...
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| Format: | Article |
| Language: | English |
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Korean Academy of Rehabilitation Medicine
2019-04-01
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| Series: | Annals of Rehabilitation Medicine |
| Subjects: | |
| Online Access: | http://www.e-arm.org/upload/pdf/arm-2019-43-2-234.pdf |
| _version_ | 1827850422049570816 |
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| author | Sung Eun Hyun Byung Se Choi Ja-Hyun Jang Inpyo Jeon Dae-Hyun Jang Ju Seok Ryu |
| author_facet | Sung Eun Hyun Byung Se Choi Ja-Hyun Jang Inpyo Jeon Dae-Hyun Jang Ju Seok Ryu |
| author_sort | Sung Eun Hyun |
| collection | DOAJ |
| description | 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 decisionmaking, especially in terms of the consideration of genetic disorders such as leukoencephalopathy in pediatric patients. |
| first_indexed | 2024-03-12T10:18:03Z |
| format | Article |
| id | doaj.art-c91d57e58243406faf2582c4a957e19f |
| institution | Directory Open Access Journal |
| issn | 2234-0645 2234-0653 |
| language | English |
| last_indexed | 2024-03-12T10:18:03Z |
| publishDate | 2019-04-01 |
| publisher | Korean Academy of Rehabilitation Medicine |
| record_format | Article |
| series | Annals of Rehabilitation Medicine |
| spelling | doaj.art-c91d57e58243406faf2582c4a957e19f2023-09-02T10:20:51ZengKorean Academy of Rehabilitation MedicineAnnals of Rehabilitation Medicine2234-06452234-06532019-04-0143223423810.5535/arm.2019.43.2.2344088Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case ReportSung Eun Hyun0Byung Se Choi1Ja-Hyun Jang2Inpyo Jeon3Dae-Hyun Jang4Ju Seok Ryu5 Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Radiology, Seoul National University Bundang Hospital, Seongnam, Korea Green Cross Genome, Yongin, Korea Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, The Catholic University of Korea, Incheon, Korea Department of Rehabilitation Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, KoreaVanishing 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 decisionmaking, especially in terms of the consideration of genetic disorders such as leukoencephalopathy in pediatric patients.http://www.e-arm.org/upload/pdf/arm-2019-43-2-234.pdfVanishing white matterLeukoencephalopathiesGenesExome |
| spellingShingle | Sung Eun Hyun Byung Se Choi Ja-Hyun Jang Inpyo Jeon Dae-Hyun Jang Ju Seok Ryu Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report Annals of Rehabilitation Medicine Vanishing white matter Leukoencephalopathies Genes Exome |
| title | Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report |
| title_full | Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report |
| title_fullStr | Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report |
| title_full_unstemmed | Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report |
| title_short | Correlation Between Vanishing White Matter Disease and Novel Heterozygous Variants Using Next-Generation Sequencing: A Case Report |
| title_sort | correlation between vanishing white matter disease and novel heterozygous variants using next generation sequencing a case report |
| topic | Vanishing white matter Leukoencephalopathies Genes Exome |
| url | http://www.e-arm.org/upload/pdf/arm-2019-43-2-234.pdf |
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