Sayaka Yamamoto, K. Okuhara, H. Tonoki, S. Iizuka, Noriko Nihei, T. Tajima
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引用次数: 5
摘要
allan - hernton - dudley综合征(AHDS)是一种X相关疾病，其特征是先天性张力过低，发展为痉挛伴严重精神运动迟缓，并伴有甲状腺激素水平改变，特别是血清T3水平高。最近，这种疾病被证明是由SLC16A2编码单羧酸甲状腺激素转运体8 (MCT8)的突变引起的。在这里，我们描述了一位26岁的日本AHDS患者，他的SLC16A2外显子3缺失。
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 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.
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