한국인 유전성 말초신경병 환자들의 원인 유전자별 빈도
Frequency of Causative Genes in Korean Hereditary Peripheral Neuropathy Patients
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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.
Abstract
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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