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Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
Hum Genet. 1996 May; 97(5):642-9.HG

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 fluorescense 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 asociated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated with PMP22 gene duplications, thus providing further support for the PMP22 gene dosage mechanism for CMT1A.

Authors+Show Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8655146

Citation

Roa, B B., et al. "Duplication of the PMP22 Gene in 17p Partial Trisomy Patients With Charcot-Marie-Tooth Type-1 Neuropathy." Human Genetics, vol. 97, no. 5, 1996, pp. 642-9.
Roa BB, Greenberg F, Gunaratne P, et al. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy. Hum Genet. 1996;97(5):642-9.
Roa, B. B., Greenberg, F., Gunaratne, P., Sauer, C. M., Lubinsky, M. S., Kozma, C., Meck, J. M., Magenis, R. E., Shaffer, L. G., & Lupski, J. R. (1996). Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy. Human Genetics, 97(5), 642-9.
Roa BB, et al. Duplication of the PMP22 Gene in 17p Partial Trisomy Patients With Charcot-Marie-Tooth Type-1 Neuropathy. Hum Genet. 1996;97(5):642-9. PubMed PMID: 8655146.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy. AU - Roa,B B, AU - Greenberg,F, AU - Gunaratne,P, AU - Sauer,C M, AU - Lubinsky,M S, AU - Kozma,C, AU - Meck,J M, AU - Magenis,R E, AU - Shaffer,L G, AU - Lupski,J R, PY - 1996/5/1/pubmed PY - 1996/5/1/medline PY - 1996/5/1/entrez SP - 642 EP - 9 JF - Human genetics JO - Hum. Genet. VL - 97 IS - 5 N2 - 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 fluorescense 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 asociated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated with PMP22 gene duplications, thus providing further support for the PMP22 gene dosage mechanism for CMT1A. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/8655146/Duplication_of_the_PMP22_gene_in_17p_partial_trisomy_patients_with_Charcot_Marie_Tooth_type_1_neuropathy_ L2 - https://medlineplus.gov/charcotmarietoothdisease.html DB - PRIME DP - Unbound Medicine ER -