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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
- 2015.1
- 수록면
- 92 - 96 (5page)
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초록· 키워드
오류제보하기
Background Mutations in the gene encoding periaxin (PRX) are known to cause autosomalrecessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean patients with these mutations.
Case Report We examined a Korean DSN patient with an early-onset, slowly progressive,demyelinating neuropathy with prominent sensory involvement. Whole-exome sequencing andsubsequent capillary sequencing revealed novel compound heterozygous nonsense mutations(p.R392X and p.R679X) in PRX. One mutation was transmitted from each of the patient’s parents. No unaffected family member had both mutations, and the mutations were not found inhealthy controls.
Conclusions We believe that these novel compound heterozygous nonsense mutations arethe underlying cause of DSN. The clinical, electrophysiologic, and pathologic phenotypes inthis family were similar to those described previously for patients with PRX mutations. Wehave identified the first PRX mutation in a Korean patient with DSN.
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참고문헌 (16)
참고문헌 신청
Boerkoel CF / 2001 / Periaxin mutations cause recessive Dejerine-Sottas neuropathy / Am J Hum Genet 68 : 325 ~ 333
Choi BO / 2012 / Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease / Hum Mutat 33 : 1610 ~ 1615
Gillespie CS / 2000 / Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice / Neuron 26 : 523 ~ 531
Guilbot A / 2001 / A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease / Hum Mol Genet 10 : 415 ~ 421
Hanemann CO / 2001 / Hereditary demyelinating neuropathies: from gene to disease / Neurogenetics 3 : 53 ~ 57
Choi BO / 2012 / Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease / Hum Mutat 33 : 1610 ~ 1615
Gillespie CS / 2000 / Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice / Neuron 26 : 523 ~ 531
Guilbot A / 2001 / A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease / Hum Mol Genet 10 : 415 ~ 421
Hanemann CO / 2001 / Hereditary demyelinating neuropathies: from gene to disease / Neurogenetics 3 : 53 ~ 57
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