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Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation

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Abstract

Mutations in the coding region of the angiotensin II type 2 receptor gene (AGTR2) were recently identified to cause X-linked recessive mental retardation. We report a mutation screening of the AGTR2 gene in 57 Finnish male patients with non-syndromic mental retardation. We identified two mutations, a 62G→T transversion, which leads to a substitution of glycine for valine (G21V) and a 157A→T transversion, which causes a substitution of isoleucine for phenylalanine (I53F). The patients with AGTR2 sequence variants had severe/profound mental retardation, epileptic seizures, restlessness, hyperactivity, and disturbed development of speech.

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Acknowledgements

We acknowledge all the individuals who participated in this study. This work was financially supported by the Academy of Finland (LIFE 2000), by the Päivikki and Sakari Sohlberg Foundation and by Helsinki University Hospital Research Funding.

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Correspondence to Irma Järvelä.

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Ylisaukko-oja, T., Rehnström, K., Vanhala, R. et al. Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation. Hum Genet 114, 211–213 (2004). https://doi.org/10.1007/s00439-003-1048-8

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  • DOI: https://doi.org/10.1007/s00439-003-1048-8

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