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2008, Number 5

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Cir Cir 2008; 76 (5)

Molecular study of a Mexican family with PMP22 duplication and a great phenotypic variability

Arenas-Sordo ML, Hernández-Zamora E, Gómez-Ortega R, Valdés-Flores M, Lona-Pimentel S, Castillo-Herrera M

Language: Spanish
References: 20
Page: 443-447
PDF size: 69.93 Kb.


ABSTRACT

Background: Peripheral nerve and its more frequent subtype CMT1A has been associated with duplication in tandem of a fragment of DNA of 1.5 Mb in 17p11-p12. This region contains the coding sequence of the peripheral myelin protein 22 (PMP22). The aim of this study is to highlight the importance of identifying the duplication of gene PMP22 in the family members of patients, even though they do not have important clinical features, in order to offer them adequate genetic counseling.
Methods: For identification of the duplication of gene PMP22 we searched for the STR polymorphisms 4A, 9A and 9B as described by Latour by capillary electrophoresis in a patient with clinical and electrophysiological diagnosis of CMT and his four asymptomatic sisters.
Results: We found all sibs have the PMP22 duplication, but only the patient demonstrates the entire spectrum of the disease. His sisters have only minor anomalies, except for one sister who does not have any anomalies, but electrophysiological studies were positive for all sibs.
Conclusions: By studying this family we can emphasize the importance of molecular studies for providing certainty of the diagnosis in order to offer patients and their relatives adequate genetic counseling.


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