Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis |
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Authors: | Esther Mancebo Iván Bernardo Maria J Castro Francisco J Fernández-Martinez Emilia Barreiro Paloma De-Pablos Ma Jesús Marin Silvia Cortezon Estela Paz-Artal Luis M Allende |
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Institution: | 1. Servicio de Inmunología, Hospital Universitario 12 de Octubre, Madrid, Spain
The contribution to this paper by Esther Mancebo and Ivan Bernardo is equal, and the order of authorship is arbitrary;2. Servicio de Inmunología, Hospital Universitario 12 de Octubre, Madrid, Spain;3. Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain |
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Abstract: | Mutations of the ataxia-telangiectasia-mutated (ATM) gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). This study reports the first A-T prenatal diagnosis performed in Spain by direct molecular analysis. The pregnant woman had a previous child suffering from A-T due to a deletion in the ATM gene. The ATM coding region was sequenced in the A-T patient and her parents. Then, a specific polymerase chain reaction (PCR) to detect the deletion was performed for prenatal diagnosis. Additionally, polymorphic HLA loci were examined in order to exclude the possible contamination by maternal DNA. In this family of Gypsy origin, we carried out a rapid molecular diagnosis of A-T. Then, a prenatal diagnosis was carried out, identifying the deletion in the fetal DNA. Additionally, we performed a population study in unrelated Spanish Gypsies and in unrelated controls, showing that the deletion described could be a hotspot in the Spanish Gypsy population. The size of the coding region and the genomic structure, together with the absence of hotspots, make the mutation screening of the ATM gene difficult. The ability to identify ATM mutations provides a tool that can be applied in confirmatory diagnosis, genetic counselling, carrier prediction and prenatal diagnosis. Copyright © 2007 John Wiley & Sons, Ltd. |
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Keywords: | ataxia-telangiectasia ATM prenatal diagnosis primary immunodeficiency |
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