ArticleJournal of medical genetics1992
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.
Article in Journal of medical genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 29 citations in OpenAlex.
- 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.Yonsei medical journal · 2005Trial
- A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.Journal of human genetics · 2006Article
- 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.Journal of neurology · 2005Article
- Investigation of peripheral neuropathy.Journal of neurology, neurosurgery, and psychiatry · 1995Review
- Clinical genetics in neurological disease.Journal of neurology, neurosurgery, and psychiatry · 1994Review
- Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.American journal of human genetics · 1993Article
- Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.Human genetics · 1993Article
- Charcot-Marie-Tooth disease type 1.Journal of medical genetics · 1992Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The gene for Charcot-Marie-Tooth disease type 1a (CMT1a) has been localised to chromosome 17p11.2. Locus D17S122 is recognised by the DNA probe pVAW409R3 which detects an MspI polymorphism with three alleles in the normal population. Subjects with CMT1a show evidence of trisomy for this region of chromosome 17 by displaying either all three alleles or a dosage effect when only two alleles are present. This phenomenon was seen in 10 out of 11 families with type I hereditary motor and sensory neuropathy (HMSN) where affected subjects were heterozygous for the MspI polymorphisms. This mutation is likely to have arisen from a non-reciprocal recombination event between non-sister chromatids of homologous chromosomes at meiosis I. The detection of this partial trisomy offers a rapid method for the diagnosis of CMT1a in families not suitable for linkage analysis.
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