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

Sayaka Yamamoto; Koji Okuhara; Hidefumi Tonoki; Susumu Iizuka; Noriko Nihei; Toshihiro Tajima

doi:10.1297/cpe.22.83

Mutation-in-Brief

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

Sayaka Yamamoto, Koji Okuhara, Hidefumi Tonoki, Susumu Iizuka, Noriko Nihei, Toshihiro Tajima

著者情報

キーワード: AHDS, hypothyroidism, MCT8, mental retardation

ジャーナルオープンアクセス

2013 年 22 巻 4 号 p. 83-86

DOI https://doi.org/10.1297/cpe.22.83

詳細

抄録

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.

責任著者(Corresponding author)

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