@article{article_1039432, title={Identification of A Novel Hemizygous SLC16A2 Nonsense Mutation in Allen-Herndon-Dudley Syndrome}, journal={Eskisehir Medical Journal}, volume={3}, pages={219–222}, year={2022}, author={Kocaağa, Ayça and Yimenicioğlu, Sevgi and Baş, Veysel Nijat and Çilingir, Oğuz and Bildirici, Yaşar}, keywords={MCT 8 defficiency, Hypotonia, SLC16A2 Gene, Thyroid hormone abnormality.}, abstract={Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked inherited disease that prevents absorption of thyroid hormone and causes axial hypotonia, weakness, and severe intellectual disability. The syndrome is caused by mutations in the SLC16A2 (known as MCT8) gene. This gene encodes the brain transporter of thyroid hormones. Deficiency of MCT8 leads to a lack of T3 entry in the brain, which causes central hypothyroidism. We described a boy who manifested congenital hypotonia, severe developmental delay, mental retardation, muscle weakness, and dystonia. He was diagnosed with AHDS which details the clinical and biochemical findings. A novel pathogenic nonsense (c.25G>T;p.E9X) mutation in the SLC16A2 gene was identified by direct sequencing. This case can expand the mutational spectrum of SLC16A2 gene mutations and support the clinical features of AHDS.}, number={2}, publisher={Eskişehir Şehir Hastanesi}