ヤマモト　トシユキ   Yamamoto Toshiyuki   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.
掲載誌名	正式名：Intractable Rare Disease Research 略　 称：Intractable Rare Dis Res ISSNコード：21863644
掲載区分	国外
巻・号・頁	5(3),pp.214-217
著者・共著者	Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T.
担当区分	最終著者,責任著者
発行年月	2016/08
概要	Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by impaired thyroid hormone transporter. Patients with AHDS usually exhibit severe motor developmental delay, delayed myelination of the brain white matter, and elevated T3 levels in thyroid tests. Neurological examination of two patients with neurodevelopmental delay revealed generalized hypotonia, and not paresis, as the main neurological finding. Nystagmus and dyskinesia were not observed. Brain magnetic resonance imaging demonstrated delayed myelination in early childhood in both patients. Nevertheless, matured myelination was observed at 6 years of age in one patient. Although the key finding for AHDS is elevated free T3, one of the patients showed a normal T3 level in childhood, misleading the diagnosis of AHDS. Genetic analysis revealed two novel SLC16A2 mutations, p.(Gly122Val) and p.(Gly221Ser), confirming the AHDS diagnosis. These results indicate that AHDS diagnosis is sometimes challenging owing to clinical variability among patients.
DOI	10.5582/irdr.2016.01051
PMID	27672545