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Start Over Author "Rating, Dietz" Journal european journal of human genetics
4 results on '"Rating, Dietz"'

1. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Author

Micalizzi, Alessia, primary, Poretti, Andrea, additional, Romani, Marta, additional, Ginevrino, Monia, additional, Mazza, Tommaso, additional, Aiello, Chiara, additional, Zanni, Ginevra, additional, Baumgartner, Bastian, additional, Borgatti, Renato, additional, Brockmann, Knut, additional, Camacho, Ana, additional, Cantalupo, Gaetano, additional, Haeusler, Martin, additional, Hikel, Christiane, additional, Klein, Andrea, additional, Mandrile, Giorgia, additional, Mercuri, Eugenio, additional, Rating, Dietz, additional, Romaniello, Romina, additional, Santorelli, Filippo Maria, additional, Schimmel, Mareike, additional, Spaccini, Luigina, additional, Teber, Serap, additional, von Moers, Arpad, additional, Wente, Sarah, additional, Ziegler, Andreas, additional, Zonta, Andrea, additional, Bertini, Enrico, additional, Boltshauser, Eugen, additional, and Valente, Enza Maria, additional

Published
2016
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2. Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Author

Lugtenberg, Dorien, primary, Kleefstra, Tjitske, additional, Oudakker, Astrid R, additional, Nillesen, Willy M, additional, Yntema, Helger G, additional, Tzschach, Andreas, additional, Raynaud, Martine, additional, Rating, Dietz, additional, Journel, Hubert, additional, Chelly, Jamel, additional, Goizet, Cyril, additional, Lacombe, Didier, additional, Pedespan, Jean-Michel, additional, Echenne, Bernard, additional, Tariverdian, Gholamali, additional, O'Rourke, Declan, additional, King, Mary D, additional, Green, Andrew, additional, van Kogelenberg, Margriet, additional, Van Esch, Hilde, additional, Gecz, Jozef, additional, Hamel, Ben CJ, additional, van Bokhoven, Hans, additional, and de Brouwer, Arjan PM, additional

Published
2009
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3. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Author

Lugtenberg, Dorien, primary, Kleefstra, Tjitske, additional, Oudakker, Astrid R, additional, Nillesen, Willy M, additional, Yntema, Helger G, additional, Tzschach, Andreas, additional, Raynaud, Martine, additional, Rating, Dietz, additional, Journel, Hubert, additional, Chelly, Jamel, additional, Goizet, Cyril, additional, Lacombe, Didier, additional, Pedespan, Jean-Michel, additional, Echenne, Bernard, additional, Tariverdian, Gholamali, additional, O'Rourke, Declan, additional, King, Mary D, additional, Green, Andrew, additional, van Kogelenberg, Margriet, additional, Van Esch, Hilde, additional, Gecz, Jozef, additional, Hamel, Ben C J, additional, van Bokhoven, Hans, additional, and de Brouwer, Arjan P M, additional

Published
2008
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4. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Author

Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R., Nillesen, Willy M., Yntema, Helger G., Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-Michel, Echenne, Bernard, Tariverdian, Gholamali, O'Rourke, Declan, King, Mary D, Green, Andrew, van Kogelenberg, Margriet, and Van Esch, Hilde

Subjects
MOLECULAR cloning, X-linked intellectual disabilities, X chromosome abnormalities, HEPATIC encephalopathy, GENETICS
Abstract

Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 duplications including MECP2 has yet to be determined in patients with unexplained X-linked mental retardation and (fe)males with severe encephalopathy. In this study, we used multiplex ligation-dependent probe amplification to screen Xq28 including MECP2 for deletions and duplications in these patient cohorts. In the group of 283 patients with X-linked mental retardation, we identified three Xq28 duplications including MECP2, which suggests that approximately 1% of unexplained X-linked mental retardation may be caused by MECP2 duplications. In addition, we found three additional MECP2 duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients. In 329 female patients, no Xq28 duplications were detected. In total, we assessed 13 male patients with a MECP2 duplication from six unrelated families. Moderate to severe mental retardation and childhood hypotonia was noted in all patients. The majority of the patients also presented with absent speech, seizures, and progressive spasticity as well as ataxia or an ataxic gait and cerebral atrophy, two previously unreported symptoms. We propose to implement DNA copy number testing for MECP2 in the current diagnostic testing in all males with moderate to severe mental retardation accompanied by (progressive) neurological symptoms.European Journal of Human Genetics (2009) 17, 444–453; doi:10.1038/ejhg.2008.208; published online 5 November 2008 [ABSTRACT FROM AUTHOR]

Published
2009
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