| Titre : | 3 CrossRef citations to date 1 Altmetric Clinical Notes Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings (2013) |
| Auteurs : | Jie Chen ; Qinjun Wei ; Jun Yao |
| Type de document : | Article |
| Dans : | International Journal of Audiology IJA (Vol.52, n°2, February 2013) |
| Langues: | Anglais |
| Résumé : | Objective: To detect genetic cause of two Chinese siblings (patient 1 and 2) with Pendred syndrome. Design: Patients and their parents underwent clinical and genetic evaluations. To identify genetic mutations, sequencing of SLC26A4 was carried out. Study sample: Two siblings and their parents. Results: Clinical evaluations showed that patient 1 suffered from bilateral postlingual progressive sensorineural hearing loss with enlarged vestibular aqueduct and slight diffuse multinodular goiter with euthyroid, and patient 2 suffered from bilateral prelingual progressive sensorineural hearing loss with enlarged vestibular aqueduct and no goiter with euthyroid. Furthermore, the sequence analysis of SLC26A4 indicated that either of the two siblings presented a compound heterozygote for the c.919A>G mutation in the splice site of intron 7 and for the c.1548insC mutation in exon 14. Their mother was a heterozygous carrier of the splice site mutation in intron 7, and their father was a heterozygous carrier of the insertion mutation in exon 14. Conclusions: Mutation analysis identified a compound heterozygous mutation (c.919A>G/c.1548insC) in SLC26A4 in two Chinese siblings with Pendred syndrome. Also, c.1548insC was first reported in the Chinese population. Although the two siblings from the same family carried the same genotype, they presented different phenotypes. |
| Disponible en ligne : | Oui |
| En ligne : | https://login.ezproxy.vinci.be/login?url=https://www.tandfonline.com/doi/full/10.3109/14992027.2012.723142 |
Exemplaires (1)
| Cote | Support | Localisation | Section | Disponibilité |
|---|---|---|---|---|
| International journal of audiology IJA. Vol.52, n°2 (February 2013) | Périodique papier | Ixelles | Rez | Consultation sur place uniquement Exclu du prêt |
