Literature DB >> 8557256

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

V Timmerman1, A Löfgren, E Le Guern, P Liang, P De Jonghe, J J Martin, D Verhalle, W Robberecht, R Gouider, A Brice, C Van Broeckhoven.   

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is in most cases associated with an interstitial deletion of the same 1.5-Mb region at 17p11.2 that is duplicated in Charcot-Marie-Tooth type 1A (CMT1A) patients. Unequal crossing-over following misalignment at flanking repeat sequences (CMT1A-REP), either leads to tandem duplication in CMT1A patients or deletion in HNPP patients. With the use of polymorphic DNA markers located within the CMT1A/HNPP duplication/deletion region we detected the HNPP deletion in 16 unrelated HNPP patients, 11 of Belgian and 5 of French origin. In all cases, the 1.5-Mb size of the HNPP deletion was confirmed by EcoRI dosage analysis using a CMT1A-REP probe. In the 16 HNPP patients, the same 370/320-kb EagI deletion-junction fragments were detected with pulsed field gel electrophoresis (PFGE), while in CMT1A patients, a 150-kb EagI duplication-junction fragment was seen. Thus, PFGE analysis of EagI-digested DNA with a CMT1A-REP probe allows direct detection of the HNPP deletion or the CMT1A duplication for DNA diagnostic purposes.

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Year:  1996        PMID： 8557256     DOI： 10.1007/bf00218828

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  53 in total

1.  A genetic map of human chromosome 17p.

Authors:  E C Wright; D E Goldgar; P R Fain; D F Barker; M H Skolnick
Journal:  Genomics       Date:  1990-05       Impact factor: 5.736

2.  Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.

Authors:  L J Valentijn; F Baas; I Zorn; G W Hensels; M de Visser; P A Bolhuis
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

3.  Genomic sequencing.

Authors:  G M Church; W Gilbert
Journal:  Proc Natl Acad Sci U S A       Date:  1984-04       Impact factor: 11.205

4.  Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

Authors:  K Hayasaka; G Takada; V V Ionasescu
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150

5.  Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

Authors:  B B Roa; C A Garcia; L Pentao; J M Killian; B J Trask; U Suter; G J Snipes; R Ortiz-Lopez; E M Shooter; P I Patel; J R Lupski
Journal:  Nat Genet       Date:  1993-10       Impact factor: 38.330

6.  Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.

Authors:  E C Mariman; A A Gabreëls-Festen; S E van Beersum; L J Valentijn; F Baas; P A Bolhuis; P J Jongen; H H Ropers; F J Gabreëls
Journal:  Ann Neurol       Date:  1994-10       Impact factor: 10.422

7.  Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

Authors:  E Nelis; V Timmerman; P De Jonghe; L Muylle; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

8.  Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

Authors:  F Palau; A Löfgren; P De Jonghe; S Bort; E Nelis; T Sevilla; J J Martin; J Vilchez; F Prieto; C Van Broeckhoven
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

9.  Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Authors:  B B Roa; C A Garcia; U Suter; D A Kulpa; C A Wise; J Mueller; A A Welcher; G J Snipes; E M Shooter; P I Patel; J R Lupski
Journal:  N Engl J Med       Date:  1993-07-08       Impact factor: 91.245

10.  Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.

Authors:  E Nelis; V Timmerman; P De Jonghe; A Vandenberghe; D Pham-Dinh; A Dautigny; J J Martin; C Van Broeckhoven
Journal:  Hum Genet       Date:  1994-12       Impact factor: 4.132
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  5 in total

1.  Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

Authors:  F Chapon; P Diraison; B Lechevalier; G Chazot; F Viader; C Bonnebouche; A Vandenberghe; V Timmerman; C Van Broeckhoven; A Vandenberghe
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-11       Impact factor: 10.154

2.  Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

Authors:  V Timmerman; B Rautenstrauss; L T Reiter; T Koeuth; A Löfgren; T Liehr; E Nelis; K D Bathke; P De Jonghe; H Grehl; J J Martin; J R Lupski; C Van Broeckhoven
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

Review 3.  The PMP22 gene and its related diseases.

Authors:  Jun Li; Brett Parker; Colin Martyn; Chandramohan Natarajan; Jiasong Guo
Journal:  Mol Neurobiol       Date:  2012-12-07       Impact factor: 5.590

4.  Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.

Authors:  Jong Rak Choi; Woon Hyoung Lee; Il Nam Sunwoo; Eun Kyung Lee; Chang Hoon Lee; Jong Baeck Lim
Journal:  Yonsei Med J       Date:  2005-06-30       Impact factor: 2.759

5.  A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.

Authors:  Chia-Yun Lin; Yi-Ning Su; Chien-Nan Lee; Chia-Cheng Hung; Wen-Fang Cheng; Win-Li Lin; Chi-An Chen; Sung-Tsang Hsieh
Journal:  J Hum Genet       Date:  2006-02-04       Impact factor: 3.172
  5 in total

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