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

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...

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Bibliographic Details
Published inClinical Pediatric Endocrinology Vol. 22; no. 4; pp. 83 - 86
Main Authors Yamamoto, Sayaka, Okuhara, Koji, Tonoki, Hidefumi, Iizuka, Susumu, Nihei, Noriko, Tajima, Toshihiro
Format Journal Article
LanguageEnglish
Published Japan The Japanese Society for Pediatric Endocrinology 01.10.2013
Subjects
AHDS
hypothyroidism
MCT8
mental retardation
Mutation-in-Brief
AHDS
mental retardation
hypothyroidism
MCT8
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Summary: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
DOI:10.1297/cpe.22.83