Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy |
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| Authors: | Benjamin B. Roa Frank Greenberg Preethi Gunaratne Christine M. Sauer Mark S. Lubinsky Chahira Kozma Jeanne M. Meck R. Ellen Magenis Lisa G. Shaffer J. R. Lupski |
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| Affiliation: | (1) Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA, US;(2) Department of Pediatrics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA, US;(3) Diagnostic Development Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892, USA, US;(4) Children’s Hospital of Wisconsin, Genetics Center, Milwaukee, WI 53226, USA, US;(5) Department of Pediatrics, Division of Genetics, Medical College of Wisconsin, Milwaukee, WI 53226, USA, US;(6) Department of Pediatrics, Georgetown University Medical Center, Washington, DC 20007, USA, US;(7) Department of Obstetrics and Gynecology, Georgetown, University Medical Center, Washington, DC 20007, USA, US;(8) Department of Pediatrics, Oregon Health Sciences University, Portland, OR 97201, USA, US;(9) Kleberg Cytogenetics Laboratory, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA, US;(10) Human Genome Center, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA, US |
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| Abstract: | Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin gene PMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs). Molecular and fluorescence in situ hybridization (FISH) analyses were performed to determine the duplication status of the PMP22 gene in four patients with rare cytogenetic duplications of 17p. Neuropathologic features of CMT1A were seen in two of these four patients, in addition to the complex phenotype associated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated with PMP22 gene duplication, thus providing further support for the PMP22 gene dosage mechanism for CMT1A. Received: 3 May 1995 / Revised: 1 August 1995 |
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