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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.5
- 수록면
- 382 - 388 (7page)
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초록· 키워드
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Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported as genetic causatives and the number is still growing. We prepared a targeted gene panel for IPN diagnosis based on next generation sequencing (NGS). The gene panel was designed to detect mutations in 73 genes reported to be genetic causes of IPN or related peripheral neuropathies, and to detect duplication of the chromosome 17p12 region, the major genetic cause of CMT1A. We applied the gene panel to 115 samples from 63 non-CMT1A families, and isolated 15 pathogenic or likely-pathogenic mutations in eight genes from 25 patients (17 families). Of them, eight mutations were unreported variants. Of particular interest, this study revealed several very rare mutations in the SPTLC2, DCTN1, and MARS genes. In addition, the effectiveness of the detection of CMT1A was confirmed by comparing five 17p12-nonduplicated controls and 15 CMT1A cases. In conclusion, we developed a gene panel for one step genetic diagnosis of IPN. It seems that its time- and cost-effectiveness are superior to previous tiered-genetic diagnosis algorithms, and it could be applied as a genetic diagnostic system for inherited peripheral neuropathies.
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참고문헌 (26)
참고문헌 신청
Antoniadi, T. / 2015 / Application of targeted multigene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability / BMC Med. Genet 16:84
Bone, L. J. / Connexin32 and X-linked Charcot-Marie-Tooth disease / Dis 4:221~230
최병옥 / 2007 / Rapid Diagnosis of CMT1A Duplications and HNPP Deletions by Multiplex Microsatellite PCR / Molecules and Cells 23(1):39~48
Choi, B. O. / 2012 / Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease / Hum. Mutat 33:1610~1615
Choi, B. O. / 2015 / A cohort study of MFN2mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients / Clin. Genet 87:594~598
Bone, L. J. / Connexin32 and X-linked Charcot-Marie-Tooth disease / Dis 4:221~230
최병옥 / 2007 / Rapid Diagnosis of CMT1A Duplications and HNPP Deletions by Multiplex Microsatellite PCR / Molecules and Cells 23(1):39~48
Choi, B. O. / 2012 / Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease / Hum. Mutat 33:1610~1615
Choi, B. O. / 2015 / A cohort study of MFN2mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients / Clin. Genet 87:594~598
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