A novel A178P mutation in SLC16A2 in a patient with Allan ‐Herndon‐Dudley syndrome

Abstract
Allan‐Herndon‐Dudley syndrome (AHDS) is a neurodevelopmental disorder related to thyroid transporter (monocarboxylate transporter 8: MCT8) deficiency (MIM #300523) (Allan et al. 1944). Mutations in the solute carrier family 16 member 2 (SLC16A2) gene, which encodes MCT8, are responsible for AHDS (Dumitrescu et al. 2004). Approximately, 100 different mutations have been identified. Here, we identified a novel SLC16A2 mutation in a patient with AHDS (Shimojima et al. 2016; Yamamoto et al. 2014).

Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Toshiyuki Yamamoto, Yongping Lu, Ryoko Nakamura, Keiko Shimojima, Ryutaro Kira Tags: Note Source Type: research