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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
- 2021.10
- 수록면
- 534 - 540 (7page)
- DOI
- https://doi.org/10.3988/jcn.2021.17.4.534
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초록· 키워드
오류제보하기
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.
목차
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참고문헌 (46)
참고문헌 신청
Harding AE / 1980 / Genetic aspects of hereditary motor and sensory neuropathy(types I and II) / J Med Genet 17:329~336
Klein CJ / 2013 / Inherited neuropathies : clinical overview and update / Muscle Nerve 48:604~622
Züchner S / 2006 / Mechanisms of disease : a molecular genetic update on hereditary axonal neuropathies / Nat Clin Pract Neurol 2:45~53
Pareyson D / 2009 / Diagnosis, natural history, and management of Charcot-Marie-Tooth disease / Lancet Neurol 8:654~667
Pareyson D / 2007 / Axonal Charcot-Marie-Tooth disease : the fog is only slowly lifting / Neurology 68:1649~1650
Klein CJ / 2013 / Inherited neuropathies : clinical overview and update / Muscle Nerve 48:604~622
Züchner S / 2006 / Mechanisms of disease : a molecular genetic update on hereditary axonal neuropathies / Nat Clin Pract Neurol 2:45~53
Pareyson D / 2009 / Diagnosis, natural history, and management of Charcot-Marie-Tooth disease / Lancet Neurol 8:654~667
Pareyson D / 2007 / Axonal Charcot-Marie-Tooth disease : the fog is only slowly lifting / Neurology 68:1649~1650
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