Advanced

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

Friesema, ECH; Grueters, A; Biebermann, H; Krude, H; von Moers, A; Reeser, M; Barrett, TG; Mancilla, EE; Svensson, Johan LU and Kester, MHA, et al. (2004) In The Lancet 364(9443). p.1435-1437
Abstract
Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine (T,) concentrations in five unrelated young boys. The coding sequence of MCT8 was analysed by PCR and direct sequencing of its six exons. In two patients, gene deletions of 2.4 kb and 24 kb were recorded and in three patients missense mutations Ala150Va1, Arg171stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T-3 entry into neurons through MCT8, resulting in impaired T-3 action and metabolism.
Please use this url to cite or link to this publication:
author
, et al. (More)
(Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
The Lancet
volume
364
issue
9443
pages
1435 - 1437
publisher
Elsevier Limited
external identifiers
  • wos:000224485300030
  • scopus:5644276275
ISSN
1474-547X
DOI
10.1016/S0140-6736(04)17226-7
language
English
LU publication?
yes
id
d7ef26be-ca48-4b3e-b55a-5e6ce7904565 (old id 898388)
date added to LUP
2008-01-10 14:41:47
date last changed
2017-12-10 03:47:48
@article{d7ef26be-ca48-4b3e-b55a-5e6ce7904565,
  abstract     = {Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine (T,) concentrations in five unrelated young boys. The coding sequence of MCT8 was analysed by PCR and direct sequencing of its six exons. In two patients, gene deletions of 2.4 kb and 24 kb were recorded and in three patients missense mutations Ala150Va1, Arg171stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T-3 entry into neurons through MCT8, resulting in impaired T-3 action and metabolism.},
  author       = {Friesema, ECH and Grueters, A and Biebermann, H and Krude, H and von Moers, A and Reeser, M and Barrett, TG and Mancilla, EE and Svensson, Johan and Kester, MHA and Kuiper, GGJM and Balkassmi, S and Uitterlinden, AG and Koehrle, J and Rodien, P and Halestrap, AP and Visser, T},
  issn         = {1474-547X},
  language     = {eng},
  number       = {9443},
  pages        = {1435--1437},
  publisher    = {Elsevier Limited},
  series       = {The Lancet},
  title        = {Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation},
  url          = {http://dx.doi.org/10.1016/S0140-6736(04)17226-7},
  volume       = {364},
  year         = {2004},
}