非表示:
キーワード:
Adolescent
Chromosomes, Human, X
Exome
Finland
Humans
Male
Mental Retardation, X-Linked/*genetics/mortality
Monocarboxylic Acid Transporters/*genetics
Muscle Hypotonia/*genetics/mortality
Muscular Atrophy/*genetics/mortality
Mutation
Pedigree
Sequence Analysis, DNA
要旨:
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.
