본문 바로가기
KERD
논문KCI 등재

한국인 Charcot-Marie-Tooth 환자에서 Myelin Protein Zero (MPZ) 유전자 돌연변이 분석-임상 및 전기생리학적 특성-

Myelin Protein Zero (MPZ) Gene Analysis in Korean Patients with Charcot-Marie-Tooth- Clinical and Electrophysiological Characteristics -

정기화|조현지|선우일남|박기덕|이광수|김승민|최병옥
대한신경과학회 (Korean Neurological Association)|2005.04|대한신경과학회지 (Journal of the Korean Neurological Association)|제23권 제2호|pp. 232-240

1

조회

0

다운로드

0

인용

0

참고문헌

주제분류신경과학

초록

Abstract

Background: Mutations in the myelin protein zero (MPZ) gene, which is located on chromosome 1q21-q22, is present in Charcot-Marie-Tooth disease type 1B (CMT1B), CMT type 2, Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. It is proposed that the nature and position of the MPZ mutations mainly determine the axonal and demyelinating phenotypes. In this study, we investigated to determine the clinical and electrophysiological characteristics in CMT patients with mutations in the MPZ gene. Methods: We examined mutations of MPZ, in 62 Korean families diagnosed as having CMT disease. Mutations were confirmed by through both strands sequencing. Nerve conduction studies were carried out in CMT patients having each mutation. Results: The three mutations (Asp118Asn, c.449-1G>T (3'-splice site), Lys236Glu), determined to be novel, were not detected in the 105 healthy controls. The mutation frequency of MPZ was similar as those found in several European populations. Electrophysiologically, 3'-splice site mutation (449-1G>T) showed the conduction block and moderate slowing nerve conduction velocities like that of CMT1B. However, the other mutations represented the electrophysiological features of CMT type 2. Conclusions: We report the identified three novel MPZ mutations in Korean CMT patients and the phenotype-genotype correlations based on nerve conduction studies.

참고문헌 (26)

  1. "Molecular cell biology of Charcot-Marie-Tooth disease", 4, pp.1~15 (2002)
  2. "From the syndrome of Charcot,Marie and Toothe to disorders of peripheral myelin proteins", 118, pp.809~818 (1995)
  3. "Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene", 5, pp.31~34 (1993)
  4. "novel mutations in the peripheral myelin genes connexin 32", pp.49~50
  5. "The Thr124Met mutation in the peripheral myelin protein zero gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype", pp.281~290 (1999)
  6. "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease(hereditary motor and sensory neuropathy type III)", 5, pp.266~268 (1993)
  7. "Congenital hypomyelination due to myelin protein zero Q215X mutation", 45, pp.676~678 (1999)
  8. "Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins a clinicopathological study of 205 Japanese patients", pp.134~151
  9. "X-linked Charcot-Marie-Tooth disease with connexin 32 mutations:clinical and electrophysiologic study", 50, pp.1074~1082 (1998)
  10. "Mutational analysis of the MPZ,PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie- Tooth disease and hereditary neuropathy with liability to pressure palsies", 99, pp.746~754 (1997)
  11. "Hereditary motor and sensory neuropathies:a biological perspective", 1, pp.110~118 (2002)
  12. "Charcot-Marie-Tooth syndrome", 50, pp.1180~1184 (1993)
  13. "Clinical phenotypes of different MPZ", pp.451~460, mutations may include Charcot-Marie-Tooth type 1B
  14. "Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease", 16, pp.177~178 (2000)
  15. "Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease:DGGE analysis for PMP22,MPZ,and Cx32", GJB1 mutations, 2002, pp.20, 392~398
  16. "Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies", 12, pp.59~68 (1998)
  17. "Screening for mutations in the peripheral myelin genes PMP22", mersiya(va iv), pp.340~347 (2000)
  18. "Charcot-Marie-Tooth disease type I and related demyelinating neuropathies:Mutation analysis in a large cohort of Italian families", 18, pp.32~41 (2001)
  19. "Novel mutations in the Charcot-Marie-Tooth disease genes PMP22,MPZ,and GJB1", 21, pp.100~ (2003)
  20. "Mutational analysis of PMP22 EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients" (2004)
  21. "Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1", 3, pp.515~516 (1994)
  22. "Connexin mutations in X-linked Charcot-Marie-Tooth disease", 262, pp.2039~2042 (1993)
  23. "Connexin32 and X-linked Charcot-Marie-Tooth disease", 4, pp.221~230 (1997)
  24. "2nd Workshop of the European CMT Consortium 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2", pp.2628 426~431 (1998), Naarden
  25. "Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene", 61, pp.1435~1437 (2003)
  26. "Axonal and demyelinating forms of the MPZ Thr124Met mutation", 108, pp.157~160 (2003)

관련 논문AI추천

유전학적으로 진단된 Charcot-Marie-Tooth 1A 환자의 전기생리학적 특성김승민, 서범천, 이미희, 조정희, 최병옥, 선우일남대한신경과학회 · 대한신경과학회지2006 · 제24권 제1호X-linked Charcot-Marie-Tooth 환자에서 새로이 발견된 Connexin32 유전자의 Missense 돌연변이 Cys168Arg김용재, 박기덕, 이미선, 정기화, 최경규, 최병옥, 황정희, 선우일남대한신경과학회 · 대한신경과학회지2004 · 제22권 제1호만성염증탈수초다발신경병과 유사한 전기진단검사 결과를 보인 새로운 p.Arg98Leu MPZ 유전자돌연변이를 가진 CMT1B 환자강희경, 김선영, 김수영, 손은희, 이인영, 이학인, 조나단대한신경과학회 · 대한신경과학회지2022 · 제40권 제3호특이 전기생리결과를 보인 X연관샤르코-마리-투스병1형김경민, 김승민, 박형준, 신하영, 이동현, 이효은, 최병옥대한신경과학회 · 대한신경과학회지2014 · 제32권 제2호ereditary Neuropathy with Liability to Pressure Palsies와 Charcot-Marie-Tooth1A 환자군의 신경전도검사 소견의 비교김상운, 김승민, 김지현, 이종윤, 정연경, 조정희, 최병옥, 선우일남대한신경과학회 · 대한신경과학회지2004 · 제22권 제4호비전형적인 신경전도검사 소견을 보인 유전성압박마비편향신경병증 가족 1예김숙희, 김지영, 김희진, 박기덕, 오지영대한신경과학회 · 대한신경과학회지2005 · 제23권 제3호

이 간행물의 다른 논문 (14건)

급성 중대뇌동맥 경색 후 발생하는 행동심리적 증상최성민, 이승한, 박만석, 김병채, 김명규, 조기현, 남태승, 박종귀pp. 152-157뇌경색 아형군의 재발 기전: 추적 관찰 연구신동훈, 방오영pp. 158-164M-mode TCD를 이용한 한 중대뇌동맥의 양측 측두창을 통한 동시 탐지석승한, 양현덕, 손일홍pp. 172-175만성 긴장형두통 및 편두통 환자들에서 세로토닌 수송체 다형성과 위해 회피 인성차원김영인, 이광수, 김중석, 박정욱pp. 181-185편두통 및 긴장형두통 환자의 심리사회적 특성이동국, 최소영, 박권생, 도진국pp. 192-198
원문 보기