[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]

Duodecim. 2014;130(21):2202-5.
[Article in Finnish]

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosomes, Human, X
  • Exome
  • Finland
  • Humans
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Mental Retardation, X-Linked / mortality
  • Monocarboxylic Acid Transporters / genetics*
  • Muscle Hypotonia / genetics*
  • Muscle Hypotonia / mortality
  • Muscular Atrophy / genetics*
  • Muscular Atrophy / mortality
  • Mutation
  • Pedigree
  • Sequence Analysis, DNA
  • Symporters

Substances

  • Monocarboxylic Acid Transporters
  • SLC16A2 protein, human
  • Symporters

Supplementary concepts

  • Allan-Herndon-Dudley syndrome