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

EC Friesema; A Grueters; H Biebermann; H Krude; A von Moers; M Reeser; Timothy Barrett; EE Mancilla; J Svensson; MH Kester; GG Kuiper; S Balkassmi; AG Utterlinden; J Koehrie; P Rodien; AP Halestrap; TJ Visser

doi:10.1016/S0140-6736(04)17226-7

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

EC Friesema, A Grueters, H Biebermann, H Krude, A von Moers, M Reeser, Timothy Barrett, EE Mancilla, J Svensson, MH Kester, GG Kuiper, S Balkassmi, AG Utterlinden, J Koehrie, P Rodien, AP Halestrap, TJ Visser

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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 (T3) 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 Ala150Val, Arg171 stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T3 entry into neurons through MCT8, resulting in impaired T3 action and metabolism.

Original language	English
Pages (from-to)	1435-1437
Number of pages	3
Journal	Lancet
Volume	364
Issue number	9443
DOIs	https://doi.org/10.1016/S0140-6736(04)17226-7
Publication status	Published - 22 Oct 2004

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Friesema, EC., Grueters, A., Biebermann, H., Krude, H., von Moers, A., Reeser, M., Barrett, T., Mancilla, EE., Svensson, J., Kester, MH., Kuiper, GG., Balkassmi, S., Utterlinden, AG., Koehrie, J., Rodien, P., Halestrap, AP., & Visser, TJ. (2004). Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet, 364(9443), 1435-1437. https://doi.org/10.1016/S0140-6736(04)17226-7

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title = "Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation",

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 (T3) 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 Ala150Val, Arg171 stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T3 entry into neurons through MCT8, resulting in impaired T3 action and metabolism.",

author = "EC Friesema and A Grueters and H Biebermann and H Krude and {von Moers}, A and M Reeser and Timothy Barrett and EE Mancilla and J Svensson and MH Kester and GG Kuiper and S Balkassmi and AG Utterlinden and J Koehrie and P Rodien and AP Halestrap and TJ Visser",

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doi = "10.1016/S0140-6736(04)17226-7",

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Friesema, EC, Grueters, A, Biebermann, H, Krude, H, von Moers, A, Reeser, M, Barrett, T, Mancilla, EE, Svensson, J, Kester, MH, Kuiper, GG, Balkassmi, S, Utterlinden, AG, Koehrie, J, Rodien, P, Halestrap, AP & Visser, TJ 2004, 'Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation', Lancet, vol. 364, no. 9443, pp. 1435-1437. https://doi.org/10.1016/S0140-6736(04)17226-7

TY - JOUR

T1 - Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

AU - Friesema, EC

AU - Grueters, A

AU - Biebermann, H

AU - Krude, H

AU - von Moers, A

AU - Reeser, M

AU - Barrett, Timothy

AU - Mancilla, EE

AU - Svensson, J

AU - Kester, MH

AU - Kuiper, GG

AU - Balkassmi, S

AU - Utterlinden, AG

AU - Koehrie, J

AU - Rodien, P

AU - Halestrap, AP

AU - Visser, TJ

PY - 2004/10/22

Y1 - 2004/10/22

N2 - 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 (T3) 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 Ala150Val, Arg171 stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T3 entry into neurons through MCT8, resulting in impaired T3 action and metabolism.

AB - 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 (T3) 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 Ala150Val, Arg171 stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T3 entry into neurons through MCT8, resulting in impaired T3 action and metabolism.

U2 - 10.1016/S0140-6736(04)17226-7

DO - 10.1016/S0140-6736(04)17226-7

M3 - Article

C2 - 15488219

SN - 1474-547X

VL - 364

SP - 1435

EP - 1437

JO - Lancet

JF - Lancet

IS - 9443

ER -

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

Abstract

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