title: SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.
abstract: Allan-Herndon-Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is the underlying cause of this disorder. We identified a novel (P537del) and a recurrent (A150V) SLC16A2 mutation in Japanese AHDS patients from two different families. A150V co-segregated with S33P. Both patients showed similar clinical features including severe neurological features and delayed myelination. Thyroid function showed a common finding of elevated T3 levels. No clear genotype-phenotype correlation was observed in patients with SLC16A2 alterations.
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Toshiyuki
authors.identifier: 0000-0002-9484-3505
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Department of Pediatrics, Central Hospital, Aichi Human Service Center , Kasugai, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Umemura
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine , Sendai, Japan.
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Uematsu
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine , Sendai, Japan.
authors.forename: Tojo
authors.initials: T
authors.lastname: Nakayama
authors.affiliation: National Institute of Neuroscience, National Center for Neurology and Psychiatry , Kodaira, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Inoue