Landa, P;
Differ, AM;
Rajput, K;
Jenkins, L;
Bitner-Glindzicz, M;
(2013)
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts.
BMC Medical Genetics
, 14
, Article 85. 10.1186/1471-2350-14-85.
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Abstract
Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. Hearing impairment and EVA may occur in the absence of goitre or thyroid dyshormonogensis in a condition known as non-syndromic EVA. A significant number of patients with Pendred syndrome and non-syndromic EVA show only one mutation in SLC26A4. Two genes, KCNJ10, encoding an inwardly rectifying potassium channel and FOXI1, a transcriptional factor gene, are thought to play a role in the disease phenotypes.
| Type: | Article |
|---|---|
| Title: | Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1186/1471-2350-14-85 |
| Publisher version: | http://dx.doi.org/10.1186/1471-2350-14-85 |
| Language: | English |
| Additional information: | © 2013 Landa et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| UCL classification: | UCL |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1413464 |
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