| Literature DB >> 25850411 |
Lucia Gagliardi1,2,3, Nathalie Nataren2,4, Jinghua Feng4,5, Andreas W Schreiber4,5, Christopher N Hahn2,3,4, Louise S Conwell6,7, David Coman7,8,9, Hamish S Scott2,3,4,5,10.
Abstract
The Allan-Herndon-Dudley syndrome is caused by mutations in the thyroid hormone transporter, Monocarboxylate transporter 8 (MCT8). It is characterized by profound intellectual disability and abnormal thyroid function. We report on a patient with Allan-Herndon-Dudley syndrome (AHDS) with profound sensorineural hearing loss which is not usually a feature of AHDS and which may have been due to a coexisting nonsense mutation in Microphthalmia-associated transcription factor (MITF).Entities:
Keywords: Allan-Herndon-Dudley syndrome; MCT8; MITF; sensorineural hearing loss
Mesh：
Year: 2015 PMID： 25850411 DOI： 10.1002/ajmg.a.37075
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802