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Journal Article

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


Kalscheuer,  V.
Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Arvio, M., Philips, A. K., Ahvenainen, M., Somer, M., Kalscheuer, V., & Järvelä, I. (2014). [Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. Duodecim; lääketieteellinen aikakauskirja, 130(21), 2202-2205.

Cite as: http://hdl.handle.net/11858/00-001M-0000-0025-BC58-7
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.