Display options
Cite
Shimojima K, Maruyama K, Kikuchi M, et al. Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Intractable Rare Dis Res. 2016;5(3):214-7doi: 10.5582/irdr.2016.01051.
Shimojima, K., Maruyama, K., Kikuchi, M., Imai, A., Inoue, K., & Yamamoto, T. (2016). Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Intractable & rare diseases research, 5(3), 214-7. https://doi.org/10.5582/irdr.2016.01051
Shimojima, Keiko, et al. "Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome." Intractable & rare diseases research vol. 5,3 (2016): 214-7. doi: https://doi.org/10.5582/irdr.2016.01051
Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T. Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Intractable Rare Dis Res. 2016 Aug;5(3):214-7. doi: 10.5582/irdr.2016.01051. PMID: 27672545; PMCID: PMC4995413.
Copy Download .nbib Format: NLM
Share it on

Intractable Rare Dis Res. 2016 Aug;5(3):214-7. doi: 10.5582/irdr.2016.01051.

Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

Intractable & rare diseases research

Keiko Shimojima, Koichi Maruyama, Masahiro Kikuchi, Ayako Imai, Ken Inoue, Toshiyuki Yamamoto

Affiliations

  1. Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
  2. Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan.
  3. Department of Pediatrics, Hitachi General Hospital, Hitachi, Japan.
  4. National Institute of Neuroscience, National Center for Neurology and Psychiatry, Kodaira, Japan.

PMID: 27672545 PMCID: PMC4995413 DOI: 10.5582/irdr.2016.01051

Abstract

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by impaired thyroid hormone transporter. Patients with AHDS usually exhibit severe motor developmental delay, delayed myelination of the brain white matter, and elevated T3 levels in thyroid tests. Neurological examination of two patients with neurodevelopmental delay revealed generalized hypotonia, and not paresis, as the main neurological finding. Nystagmus and dyskinesia were not observed. Brain magnetic resonance imaging demonstrated delayed myelination in early childhood in both patients. Nevertheless, matured myelination was observed at 6 years of age in one patient. Although the key finding for AHDS is elevated free T3, one of the patients showed a normal T3 level in childhood, misleading the diagnosis of AHDS. Genetic analysis revealed two novel SLC16A2 mutations, p.(Gly122Val) and p.(Gly221Ser), confirming the AHDS diagnosis. These results indicate that AHDS diagnosis is sometimes challenging owing to clinical variability among patients.

Keywords: Thyroid function; delayed myelination; monocarboxylate transporter 8 (MCT8)

References

  1. Eur J Med Genet. 2013 Apr;56(4):207-10 - PubMed
  2. Eur J Endocrinol. 2005 Sep;153(3):359-66 - PubMed
  3. J Child Neurol. 2013 Jun;28(6):795-800 - PubMed
  4. J Med Genet. 2011 Sep;48(9):606-9 - PubMed
  5. J Child Neurol. 2015 Oct;30(12):1664-8 - PubMed
  6. Am J Hum Genet. 2004 Jan;74(1):168-75 - PubMed
  7. Hum Genome Var. 2014 Oct 09;1:14010 - PubMed
  8. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):107-13 - PubMed
  9. Pediatr Neurol. 2014 Sep;51(3):414-6 - PubMed
  10. Am J Hum Genet. 2005 Jul;77(1):41-53 - PubMed

Publication Types