title: [Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].
abstract: Normal function of the thyroid gland is the cornerstone of a child's mental development and physical growth. We describe a Finnish family, in which the diagnosis of three brothers became clear after investigations that lasted for more than 30 years. Two of the sons have already died. DNA analysis of the third one, a 16-year-old boy, revealed in exome sequencing of the complete X chromosome a mutation in the SLC16A2 gene, i.e. MCT8, coding for a thyroid hormone transport protein. Allan-Herndon-Dudley syndrome was thus shown to be the cause of multiple disabilities.
authors.affiliation: Päijät-Hämeen sosiaali- ja terveydenhuollon kuntayhtymä.
authors.forename: Maria
authors.initials: M
authors.lastname: Arvio
authors.forename: Anju K
authors.initials: AK
authors.lastname: Philips
authors.forename: Minna
authors.initials: M
authors.lastname: Ahvenainen
authors.forename: Mirja
authors.initials: M
authors.lastname: Somer
authors.forename: Vera
authors.initials: V
authors.lastname: Kalscheuer
authors.forename: Irma
authors.initials: I
authors.lastname: Järvelä
mesh_terms: D000293:Adolescent; D041321:Chromosomes, Human, X; D059472:Exome; D005387:Finland; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000401:mortality; D027501:Monocarboxylic Acid Transporters / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics* / Q000401:mortality; D009133:Muscular Atrophy / Q000235:genetics* / Q000401:mortality; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D027981:Symporters
chemical_list: D027501:Monocarboxylic Acid Transporters; C090735:SLC16A2 protein, human; D027981:Symporters