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A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease
DC Field | Value | Language |
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dc.contributor.author | 박형준 | - |
dc.contributor.author | 조한나 | - |
dc.contributor.author | 최영철 | - |
dc.contributor.author | 홍지만 | - |
dc.date.accessioned | 2021-12-28T17:05:40Z | - |
dc.date.available | 2021-12-28T17:05:40Z | - |
dc.date.issued | 2021-10 | - |
dc.identifier.issn | 1738-6586 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/186931 | - |
dc.description.abstract | Background and purpose: Pathogenic variants in B4GALNT1 have been reported to cause hereditary spastic paraplegia 26. This study has revealed that a novel compound heterozygous pathogenic variant in B4GALNT1 is associated with axonal Charcot-Marie-Tooth disease (CMT). Methods: Whole-exome sequencing (WES) was used to identify the causative factors and characterize the clinical features of a Korean family with sensorimotor polyneuropathy. Functional assessment of the mutant genes was performed using a motor neuron cell line. Results: The WES revealed a compound heterozygous pathogenic variant (c.128dupC and c.451G>A) in B4GALNT1 as the causative of the present patient, a 53-year-old male who presented with axonal sensorimotor polyneuropathy and cognitive impairment without spasticity. The electrodiagnostic study showed axonal sensorimotor polyneuropathy. B4GALNT1 was critical to the proliferation of motor neuron cells. The compensation assay revealed that the pathogenic variants might affect the enzymatic activity of B4GALNT1. Conclusions: This study is the first to identify a case of autosomal recessive axonal CMT associated with a compound heterozygous pathogenic variant in B4GALNT1. This finding expands the clinical and genetic spectra of peripheral neuropathy. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Korean Neurological Association | - |
dc.relation.isPartOf | JOURNAL OF CLINICAL NEUROLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학교실) | - |
dc.contributor.googleauthor | Ji Man Hong | - |
dc.contributor.googleauthor | Hyeonjin Jeon | - |
dc.contributor.googleauthor | Young Chul Choi | - |
dc.contributor.googleauthor | Hanna Cho | - |
dc.contributor.googleauthor | Young Bin Hong | - |
dc.contributor.googleauthor | Hyung Jun Park | - |
dc.identifier.doi | 10.3988/jcn.2021.17.4.534 | - |
dc.contributor.localId | A01758 | - |
dc.contributor.localId | A03920 | - |
dc.contributor.localId | A04116 | - |
dc.contributor.localId | A04439 | - |
dc.relation.journalcode | J01327 | - |
dc.identifier.eissn | 2005-5013 | - |
dc.identifier.pmid | 34595861 | - |
dc.subject.keyword | B4GALNT1 | - |
dc.subject.keyword | Charcot-Marie-Tooth disease | - |
dc.subject.keyword | whole-exome sequencing | - |
dc.contributor.alternativeName | Park, Hyung Jun | - |
dc.contributor.affiliatedAuthor | 박형준 | - |
dc.contributor.affiliatedAuthor | 조한나 | - |
dc.contributor.affiliatedAuthor | 최영철 | - |
dc.contributor.affiliatedAuthor | 홍지만 | - |
dc.citation.volume | 17 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 534 | - |
dc.citation.endPage | 540 | - |
dc.identifier.bibliographicCitation | JOURNAL OF CLINICAL NEUROLOGY, Vol.17(4) : 534-540, 2021-10 | - |
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