Clinical and Genetic Investigation of Atrial Septal Defect with Atrioventricular Conduction Defect in a Large Consanguineous Tunisian Family

Abstract : Background. Atrial septal defect (ASD) is an autosomal dominant disease characterized by left-to-right shunting and increased right ventricular output. Approximately 5-10% of congenital heart diseases (CHD) are due to ASD, which is one of the most frequent CHD found in adults. The gene responsible for ASD was mapped to chromosome 5q35 encoding the transcription factor NKX2-5 that plays an important role for the regulation of septation during cardiac morphogenesis. Methods. A Tunisian family including four affected members was investigated. Individuals were genotyped using the polymorphic microsatellite markers D5S394 and D5S2069 overlapping the NKX2-5 gene. Results. We report here clinical and molecular investigation of a Tunisian consanguineous family with four affected members. Two presented with ASD associated with prolonged PR interval, whereas the other two presented only a prolonged PR interval. We also identified five asymptomatic individuals in the same family with ventricular preexcitation. Although the patients were products of a consanguineous marriage, no other abnormalities were observed in this family. Genotyping and linkage analysis showed exclusion of linkage between the gene responsible for ASD in this family and NKX2.5 gene. Conclusions. Our results further confirm the genetic heterogeneity of ASD. (C) 2008 IMSS. Published by Elsevier Inc.
Liste complète des métadonnées

Littérature citée [30 références]  Voir  Masquer  Télécharger

https://hal-riip.archives-ouvertes.fr/pasteur-01375202
Contributeur : Institut Pasteur Tunis <>
Soumis le : mercredi 14 décembre 2016 - 11:47:09
Dernière modification le : lundi 8 octobre 2018 - 17:44:08

Fichier

 Accès restreint
Fichier visible le : jamais

Connectez-vous pour demander l'accès au fichier

Identifiants

Collections

Citation

Sonia Nouira, Ikram Kamoun, Houyem Ouragini, Cherine Charfeddine, Haifa Mahjoub, et al.. Clinical and Genetic Investigation of Atrial Septal Defect with Atrioventricular Conduction Defect in a Large Consanguineous Tunisian Family. Archives of Medical Research, Elsevier, 2008, 39 (4), pp.429 - 433. 〈10.1016/j.arcmed.2008.01.002〉. 〈pasteur-01375202〉

Partager

Métriques

Consultations de la notice

52