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

@article{Timmerman1997DetectionOT,
  title={Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.},
  author={Vincent Timmerman and Bernd W Rautenstrauss and Lawrence T. Reiter and Thearith Koeuth and Ann L{\"o}fgren and Thomas Liehr and Eva Nelis and K D Bathke and Peter de Jonghe and Holger Grehl and J. J. Borrero Mart{\'i}n and James R. Lupski and Christine van Broeckhoven},
  journal={Journal of Medical Genetics},
  year={1997},
  volume={34},
  pages={43 - 49}
}
Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system. The majority of CMT1 patients have a 1.5Mb tandem duplication (CMT1A) in chromosome 17p11.2 while most HNPP patients have a deletion of the same 1.5 Mb region. The CMT1A duplication and HNPP deletion are the reciprocal products of an unequal crossing over event between misaligned flanking CMT1A-REP elements. We analysed… 
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
TLDR
Results are consistent with the hypothesis that minimum efficient processing segments, which have been characterized in Escherichia coli, yeast, and cultured mammalian cells, may be required for efficient homologous meiotic recombination in humans.
Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test.
TLDR
A PCR-based diagnostic method to detect a recombination hotspot associated with the CMT1A duplication and the results correlated very well with the results of Southern transfer analysis.
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
TLDR
A reliable, single tube real-time quantitative PCR assay for rapid determination of PMP22 gene dosage directly and shows superior sensitivity to microsatellite analysis and has the additional advantage of being a fast and uniform assay for quantitative analysis of both CMT1A and HNPP.
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.
The molecular mechanism resulting in the duplication or deletion of a 1.5 Mb region of 17p11.2-p12, associated, respectively, with Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot‐Marie‐Tooth neuropathy patients
TLDR
A mutation screening in 174 unrelated CMT patients and three HNPP families of Russian origin found twelve distinct mutations in Cx32, six mutations in MPZ, and two mutations in PMP22, which lead to a CMT1 phenotype.
Detection of Charcot-Marie-Tooth Type 1A (CMT1A) Disease Using Multiplex Real-Time Assay
TLDR
The comparative multiplex real-time PCR can be used as a good replacement method for diagnosis of CMT1A and HNPP due to its simplicity and high cost effectiveness.
Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.
TLDR
The CMT1A hot-spot stands in sharp contrast to the human MS32 mini-satellite-associated hot- spot that exhibits highly enhanced recombination initiation in addition to positional specificity, and is speculated to consist of a region with genome average recombination potential embedded within a recombination cold-spot.
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A
TLDR
The method enabled us to characterise the duplication in both foetuses and demonstrate that it arose from a rare recombination event taking place outside the 1.7 kb region, and it might be considered for use in primary screening for pre- and postnatal diagnosis of CMT1A.
PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A
TLDR
A rapid and simple quantitative PCR assay for the detection of the CMT1A duplication or the HNPP deletion is developed based on the quantitative determination of the copy number of a 240-base pair DNA fragment from exon 4 of the PMP22 gene.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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