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...

Full description

Saved in:
Bibliographic Details
Published inClinical Pediatric Endocrinology Vol. 22; no. 4; pp. 83 - 86
Main Authors Sayaka Yamamoto, Koji Okuhara, Hidefumi Tonoki, Susumu Iizuka, Noriko Nihei, Toshihiro Tajima
Format Journal Article
LanguageJapanese
Published The Japanese Society for Pediatric Endocrinology 01.10.2013
Online AccessGet full text

Cover

More Information
Summary: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.
ISSN:0918-5739
1347-7358