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A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.
Neuromuscul Disord. 2004 May; 14(5):313-20.ND

Abstract

The most frequent inherited peripheral neuropathy is the peripheral myelin protein 22 (PMP22) gene related disease. Duplication, deletion, and point mutations in that gene are associated with phenotypic variability. Here we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a Charcot-Marie-Tooth type 1 variable phenotype, ranging from asymptomatic to severely affected. These findings suggest that the fourth transmembrane domain of the PMP22 gene may play an important role, although the intrafamilial clinical variability reinforces the observation that pathogenic mutations are not always phenotype determinant and that other factors (genetic or epigenetic) modulate the severity of the clinical course.

Authors+Show Affiliations

Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Rua do Matao 277 CEP, São Paulo 05508-900, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15099590

Citation

Abe, K T., et al. "A Novel Stop Codon Mutation in the PMP22 Gene Associated With a Variable Phenotype." Neuromuscular Disorders : NMD, vol. 14, no. 5, 2004, pp. 313-20.
Abe KT, Lino AM, Hirata MT, et al. A novel stop codon mutation in the PMP22 gene associated with a variable phenotype. Neuromuscul Disord. 2004;14(5):313-20.
Abe, K. T., Lino, A. M., Hirata, M. T., Pavanello, R. C., Brotto, M. W., Marchiori, P. E., & Zatz, M. (2004). A novel stop codon mutation in the PMP22 gene associated with a variable phenotype. Neuromuscular Disorders : NMD, 14(5), 313-20.
Abe KT, et al. A Novel Stop Codon Mutation in the PMP22 Gene Associated With a Variable Phenotype. Neuromuscul Disord. 2004;14(5):313-20. PubMed PMID: 15099590.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel stop codon mutation in the PMP22 gene associated with a variable phenotype. AU - Abe,K T, AU - Lino,A M M, AU - Hirata,M T A, AU - Pavanello,R C M, AU - Brotto,M W I, AU - Marchiori,P E, AU - Zatz,M, PY - 2003/12/09/received PY - 2004/01/26/revised PY - 2004/01/29/accepted PY - 2004/4/22/pubmed PY - 2004/6/23/medline PY - 2004/4/22/entrez SP - 313 EP - 20 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 14 IS - 5 N2 - The most frequent inherited peripheral neuropathy is the peripheral myelin protein 22 (PMP22) gene related disease. Duplication, deletion, and point mutations in that gene are associated with phenotypic variability. Here we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a Charcot-Marie-Tooth type 1 variable phenotype, ranging from asymptomatic to severely affected. These findings suggest that the fourth transmembrane domain of the PMP22 gene may play an important role, although the intrafamilial clinical variability reinforces the observation that pathogenic mutations are not always phenotype determinant and that other factors (genetic or epigenetic) modulate the severity of the clinical course. SN - 0960-8966 UR - https://www.unboundmedicine.com/medline/citation/15099590/A_novel_stop_codon_mutation_in_the_PMP22_gene_associated_with_a_variable_phenotype_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960896604000306 DB - PRIME DP - Unbound Medicine ER -