Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies

E A Stronach, C Clark, C Bell, A Lofgren, N G McKay, V Timmerman, C Van Broeckhoven, N E Haites

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the result of DNA duplications and deletions respectively of a 1.5 Mb region on 17p11.2. The region contains the peripheral myelin protein 22 gene (PMP-22) and is flanked by homologous proximal and distal CMT1A-REP elements. The majority of duplications and deletions arise during meiotic recombination following misalignment and unequal crossing-over between the proximal and distal CMT1A-REP elements. The cross-over breakpoints are most frequently located within a 1.7 Kb hotspot of recombination and produce novel duplication or deletion junctional CMT1A-REPs with unique restriction patterns. Here we describe the use of PCR based tests, which amplify a 3.6 Kb region including the 1.7 Kb hotspot from specific CMT1A-REPs, for the rapid diagnosis of CMT1A and HNPP patients. In an analysis of 96 CMT1A and 30 HNPP patients, duplication and deletion events were detected in all samples with cross-over breakpoints known to be within the region amplified by PCR.

Original languageEnglish
Pages (from-to)117-122
Number of pages6
JournalJournal of the Peripheral Nervous System
Volume4
Publication statusPublished - 1999

Keywords

  • CMT1A duplication
  • HNPP deletion
  • CMT1A-REP
  • diagnosis
  • DISEASE TYPE 1A
  • RECOMBINATION HOTSPOT
  • DUPLICATION
  • CMT1A
  • DELETIONS
  • REGION
  • PMP-22
  • REPEAT

Cite this

Stronach, E. A., Clark, C., Bell, C., Lofgren, A., McKay, N. G., Timmerman, V., ... Haites, N. E. (1999). Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. Journal of the Peripheral Nervous System, 4, 117-122.

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. / Stronach, E A ; Clark, C ; Bell, C ; Lofgren, A ; McKay, N G ; Timmerman, V ; Van Broeckhoven, C ; Haites, N E .

In: Journal of the Peripheral Nervous System, Vol. 4, 1999, p. 117-122.

Research output: Contribution to journalArticle

Stronach, EA, Clark, C, Bell, C, Lofgren, A, McKay, NG, Timmerman, V, Van Broeckhoven, C & Haites, NE 1999, 'Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies', Journal of the Peripheral Nervous System, vol. 4, pp. 117-122.
Stronach, E A ; Clark, C ; Bell, C ; Lofgren, A ; McKay, N G ; Timmerman, V ; Van Broeckhoven, C ; Haites, N E . / Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. In: Journal of the Peripheral Nervous System. 1999 ; Vol. 4. pp. 117-122.
@article{2755ee9b562d4a08939a6e2335f4faec,
title = "Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies",
abstract = "The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the result of DNA duplications and deletions respectively of a 1.5 Mb region on 17p11.2. The region contains the peripheral myelin protein 22 gene (PMP-22) and is flanked by homologous proximal and distal CMT1A-REP elements. The majority of duplications and deletions arise during meiotic recombination following misalignment and unequal crossing-over between the proximal and distal CMT1A-REP elements. The cross-over breakpoints are most frequently located within a 1.7 Kb hotspot of recombination and produce novel duplication or deletion junctional CMT1A-REPs with unique restriction patterns. Here we describe the use of PCR based tests, which amplify a 3.6 Kb region including the 1.7 Kb hotspot from specific CMT1A-REPs, for the rapid diagnosis of CMT1A and HNPP patients. In an analysis of 96 CMT1A and 30 HNPP patients, duplication and deletion events were detected in all samples with cross-over breakpoints known to be within the region amplified by PCR.",
keywords = "CMT1A duplication, HNPP deletion, CMT1A-REP, diagnosis, DISEASE TYPE 1A, RECOMBINATION HOTSPOT, DUPLICATION, CMT1A, DELETIONS, REGION, PMP-22, REPEAT",
author = "Stronach, {E A} and C Clark and C Bell and A Lofgren and McKay, {N G} and V Timmerman and {Van Broeckhoven}, C and Haites, {N E}",
year = "1999",
language = "English",
volume = "4",
pages = "117--122",
journal = "Journal of the Peripheral Nervous System",
issn = "1085-9489",
publisher = "Wiley-Blackwell",

}

TY - JOUR

T1 - Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies

AU - Stronach, E A

AU - Clark, C

AU - Bell, C

AU - Lofgren, A

AU - McKay, N G

AU - Timmerman, V

AU - Van Broeckhoven, C

AU - Haites, N E

PY - 1999

Y1 - 1999

N2 - The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the result of DNA duplications and deletions respectively of a 1.5 Mb region on 17p11.2. The region contains the peripheral myelin protein 22 gene (PMP-22) and is flanked by homologous proximal and distal CMT1A-REP elements. The majority of duplications and deletions arise during meiotic recombination following misalignment and unequal crossing-over between the proximal and distal CMT1A-REP elements. The cross-over breakpoints are most frequently located within a 1.7 Kb hotspot of recombination and produce novel duplication or deletion junctional CMT1A-REPs with unique restriction patterns. Here we describe the use of PCR based tests, which amplify a 3.6 Kb region including the 1.7 Kb hotspot from specific CMT1A-REPs, for the rapid diagnosis of CMT1A and HNPP patients. In an analysis of 96 CMT1A and 30 HNPP patients, duplication and deletion events were detected in all samples with cross-over breakpoints known to be within the region amplified by PCR.

AB - The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the result of DNA duplications and deletions respectively of a 1.5 Mb region on 17p11.2. The region contains the peripheral myelin protein 22 gene (PMP-22) and is flanked by homologous proximal and distal CMT1A-REP elements. The majority of duplications and deletions arise during meiotic recombination following misalignment and unequal crossing-over between the proximal and distal CMT1A-REP elements. The cross-over breakpoints are most frequently located within a 1.7 Kb hotspot of recombination and produce novel duplication or deletion junctional CMT1A-REPs with unique restriction patterns. Here we describe the use of PCR based tests, which amplify a 3.6 Kb region including the 1.7 Kb hotspot from specific CMT1A-REPs, for the rapid diagnosis of CMT1A and HNPP patients. In an analysis of 96 CMT1A and 30 HNPP patients, duplication and deletion events were detected in all samples with cross-over breakpoints known to be within the region amplified by PCR.

KW - CMT1A duplication

KW - HNPP deletion

KW - CMT1A-REP

KW - diagnosis

KW - DISEASE TYPE 1A

KW - RECOMBINATION HOTSPOT

KW - DUPLICATION

KW - CMT1A

KW - DELETIONS

KW - REGION

KW - PMP-22

KW - REPEAT

M3 - Article

VL - 4

SP - 117

EP - 122

JO - Journal of the Peripheral Nervous System

JF - Journal of the Peripheral Nervous System

SN - 1085-9489

ER -