SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome

Toshiyuki Yamamoto, Keiko Shimojima, Ayako Umemura, Mitsugu Uematsu, Tojo Nakayama, Ken Inoue

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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.

Original languageEnglish
Article number14010
JournalHuman Genome Variation
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics


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