title: 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 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.
authors.affiliation: Department of Pediatrics, Tenshi Hospital, Social Medical Corporation Bokoi, Sapporo, Japan.
authors.forename: Sayaka
authors.initials: S
authors.lastname: Yamamoto
authors.forename: Koji
authors.initials: K
authors.lastname: Okuhara
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Tonoki
authors.forename: Susumu
authors.initials: S
authors.lastname: Iizuka
authors.forename: Noriko
authors.initials: N
authors.lastname: Nihei
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tajima
keywords: AHDS; MCT8; hypothyroidism; mental retardation