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Titre : | Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family (2014) |
Auteurs : | Elham Davoudi-Dehaghani ; Mohammad-Sadegh Fallah ; Tina Shirzad |
Type de document : | Article |
Dans : | International Journal of Audiology IJA (Vol.53, n°1-12, January-December 2014) |
Langues: | Anglais |
Résumé : | Objective: This paper reports a consanguineous deaf family with three different mutations in the GJB2 gene. Design: Four members of an Iranian deaf family were recruited in this study. The GJB2 coding region and exon-intron boundaries were investigated using direct sequencing. Study sample: The proposita was a 12-year-old girl with congenital non-syndromic hearing loss. She was born to consanguineous parents. The proposita, her parents and deaf maternal uncle were screened for GJB2 mutations. Results: Sequencing demonstrated the presence of the c.176_191del and c.327_328delGGinsA mutations in the proposita, the c.176_191del mutation in her father, and the c.35delG and c.327_328delGGinsA mutations in trans in her apparently unaffected mother as well as in her congenitally deaf uncle. Follow-up pure-tone audiometry revealed moderate to severe mid- and high-frequency hearing loss in the mother. Conclusions: This study shows the complexity of genetic testing and counseling for hearing loss. |
Accès : | Contactez la bibliothèque d'Ixelles si le lien vers la ressource électronique ne fonctionne plus /Contactez la bibliothèque d'Ixelles si le lien vers la ressource électronique ne fonctionne plus |
Disponible en ligne : | Oui |
En ligne : | https://login.ezproxy.vinci.be/login?url=https://www.tandfonline.com/doi/full/10.3109/14992027.2013.850748 |
Exemplaires (1)
Cote | Support | Localisation | Section | Disponibilité |
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International journal of audiology IJA. Vol.53, n°1-12 (January-December 2014) | Périodique papier | Ixelles | Rez | Consultation sur place uniquement Exclu du prêt |