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
- 2013.1
- 수록면
- 11 - 19 (9page)
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초록· 키워드
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Objectives: Hereditary peripheral neuropathy (HPN) is the most common inherited neuropathy and a genetically and clinically heterogeneous disorder. HPN consists of hereditary motor and sensory neuropathy [HMSN, also called as Charcot-Marie-Tooth disease (CMT)], distal hereditary motor neuropathy (dHMN), hereditary sensory neuropathy (HSN), and hereditary neuropathy with a liability to pressure palsy (HNPP). More than 60 genes have been identified as HPN causative genes.
Methods: We analyzed genetic causes from 581 Korean inherited peripheral neuropathy families to determine the frequencies according to each subtype or genetic cause within this clinic population.
Results: We identified 18 causative CMT genes (BSCL2, EGR2, GARS, GDAP1, GJB1, HSPB1, HSPB8, MFN2, MPZ, MYH14, NEFL, PMP22, PRPS1, PRX, SBF1, SPTLC1, TFG, and TUBB3) from 316 unrelated families (54.5%). The most frequent genetic cause was PMP22 duplication/deletion, which causes CMT1A/HNPP, and the next is GJB1 mutation causing CMTX1.
Conclusion: Although genetic causes have not been determined in many cases, this study revealed that genetic background of HPN in Koreans is considerablely different from other ethnic groups. This study will be useful for development of exact molecular diagnostic tools for HPN.
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참고문헌 (24)
참고문헌 신청
Auer-Grumbach M / 2003 / Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review / Arch Neurol 60 : 329 ~ 334
Bort S / 1997 / Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability
Charcot J / 1886 / Sur une forme particulaire d’atrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains / Re
Choi BO / 2004 / Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients / Hum Mutat 24 : 185 ~ 186
Choi BO / 2011 / A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 / Hum Mutat 32 : 6
Bort S / 1997 / Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability
Charcot J / 1886 / Sur une forme particulaire d’atrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains / Re
Choi BO / 2004 / Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients / Hum Mutat 24 : 185 ~ 186
Choi BO / 2011 / A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 / Hum Mutat 32 : 6
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