Abstract: Abstract: Allan-Herndon-Dudley syndrome (AHDS) is a rare genetic disease with specific clinical manifestations and thyroid function changes. The disease is caused by a defect in the specific thyroid transporter MCT8 caused by the SLC16A2 pathogenic mutation. This article reports a child with global developmental delay, dystonia and thyroid dysfunction. A c.1170+1G>A hemizygous mutation in the intron 4 of the SLC16A2 gene was found with next-generation sequencing. No previous reports of this mutation were found in the databases. The variation enriched the pathogenic mutation spectrum of the SLC16A2 gene.

Key words: intellectual disability, sequence analysis, thyroid function tests, Allan-Herndon-Dudley syndrome, SLC16A2 gene