A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome.

Abstract

Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. Recently, this disease was proved to be caused by mutations in SLC16A2 coding for the monocarboxylate thyroid hormone transporter 8 (MCT8). Here we describe a 26-year -old Japanese patient with AHDS who had deletion of exon 3 of SLC16A2.

• Authors: Sayaka Yamamoto, Koji Okuhara, Hidefumi Tonoki, Susumu Iizuka, Noriko Nihei, Toshihiro Tajima
• Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology (Clin Pediatr Endocrinol) Vol. 22 Issue 4 Pg. 83-6 (Oct 2013) ISSN: 0918-5739 [Print] Japan
• PMID: 24170966 (Publication Type: Journal Article)