Publication: A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
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Thiel, C. T., Kraus, C., Rauch, A., Ekici, A. B., Rautenstrauss, B., & Reis, A. (2002). A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. European Journal of Human Genetics, 11, 170–178. https://doi.org/10.1038/sj.ejhg.5200920
Abstract
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Abstract
A 1.4-Mb tandem duplication, including the gene for peripheral myelin protein 22 (PMP22) in chromosome 17p11.2-12 is responsible for 70% of the cases of the demyelinating type 1 of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy I (CMT1A/HMSN I). A reciprocal deletion of this CMT1A region causes the hereditary neuropathy with liability to pressure palsies (HNPP). The CMT1A duplication increases the PMP22 gene dosage from two to three, the HNPP deletion reduces the gene dosage from two to one. Currently, routine
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- Thiel, Christian T
- Kraus, Cornelia
- Rauch, Anita
- Ekici, Arif B
- Rautenstrauss, Bernd
- Reis, André
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Thiel, C. T., Kraus, C., Rauch, A., Ekici, A. B., Rautenstrauss, B., & Reis, A. (2002). A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. European Journal of Human Genetics, 11, 170–178. https://doi.org/10.1038/sj.ejhg.5200920
