ArticleJournal of medical genetics1997
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 53 citations in OpenAlex.
- Anesthetic Considerations for Patients with Hereditary Neuropathy with Liability to Pressure Palsies: A Narrative Review.Healthcare (Basel, Switzerland) · 2024Review
- Yield of the PMP22 deletion analysis in patients with compression neuropathies.Journal of neurology · 2020Article
- Structural variation mutagenesis of the human genome: Impact on disease and evolution.Environmental and molecular mutagenesis · 2015Review
- The coalescent with selection on copy number variants.Genetics · 2012Article
- Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.American journal of human genetics · 2010Article
- Genomic disorders ten years on.Genome medicine · 2009Article
- 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.Journal of neurology · 2005Article
- Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.American journal of human genetics · 2003Article
- The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.Genome research · 2001Article
- A comparison of methods for gene dosage analysis in HMSN type 1.Journal of medical genetics · 2001Article
- Inherited neuropathies: from gene to disease.Brain pathology (Zurich, Switzerland) · 1999Review
- Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.Journal of medical genetics · 1998Article
- Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.American journal of human genetics · 1998Article
- Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Molecular medicine (Cambridge, Mass.) · 1998Review
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Authors and funding
13 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 162 unrelated CMT1A duplication patients and HNPP deletion patients from 11 different countries for the presence of a recombination hotspot in the CMT1A-REP sequences. A hotspot for unequal crossing over between the misaligned flanking CMT1A-REP elements was observed through the detection of novel junction fragments in 76.9% of 130 unrelated CMT1A patients and in 71.9% of 32 unrelated HNPP patients. This recombination hotspot was also detected in eight out of 10 de novo CMT1A duplication and in two de novo HNPP deletion patients. These data indicate that the hotspot of unequal crossing over occurs in several populations independently of ethnic background and is directly involved in the pathogenesis of CMT1A and HNPP. We conclude that the detection of junction fragments from the CMT1A-REP element on Southern blot analysis is a simple and reliable DNA diagnostic tool for the identification of the CMT1A duplication and HNPP deletion in most patients.
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