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Improvements in the diagnosis of dystrophinopathies: what have we learnt in these last 20 years?

L.B. López-Hernández, M.L. Ayala-Madrigal, D. van Heusden, F.J. Estrada-Mena, P. Canto, L. Sandoval-Ramírez, B. Gómez-Díaz, R.M. Coral-Vázquez [REV NEUROL 2011;52:239-249] PMID: 21312170 DOI: https://doi.org/10.33588/rn.5204.2010502

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Volumen 52 | Number 04 | Nº of views of the article 5.549 | Nº of PDF downloads 1.296 | Article publication date 16/02/2011

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ABSTRACT

INTRODUCTION Dystrophinopathies are X-linked genetic disorders caused by mutations in the DMD gene. Genetic tests are of utmost importance for management and genetic counseling of these diseases. However, the complexity of the DMD gene is a challenge for diagnosis.

AIM To describe recent advances in the diagnosis of dystrophinopathies, after 20 years since the firsts molecular assays for genetic screening for these diseases. DEVELOPMENT. Currently, a variety of strategies such as automated mutation detection, cell-based methods and high throughput haplotyping have been developed to facilitate diagnosis of dystrophinopathies, carrier detection, prenatal and preimplantation diagnosis. CONCLUSION. New technologies have improved early detection and optimal management of dystrophinopathies and have established the basis for future molecular medicine. The most significant advances in dystrophinopathy diagnosis are reviewed herein. KeywordsCarrier Duchenne Dystrophin Preimplantation genetics Prenatal diagnosis

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Improvements in the diagnosis of dystrophinopathies: what have we learnt in these last 20 years?