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Alpha-Thalassämie-Retardierungs-Syndrom

ATRX-Syndrom bei 2 Jungen mit mentaler Retardierung und Muskelhypotonie

Alpha-thalassemia X-linked mental retardation syndrome (ATRX)

ATRX syndrome in two boys with mental retardation and muscular hypotonia

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Zusammenfassung

Das α-Thalassämie-Retardierungs-Syndrom (ATRX-Syndrom, MIM#301040) führt bei Jungen zu schwerer mentaler Retardierung, Muskelhypotonie, fazialer Dysmorphie und Genitalfehlbildungen. Wir berichten über eine Familie mit 2 betroffenen Knaben. Die Diagnose gelang mittels materner X-Inaktivierungsanalyse und molekulargenetischer Analyse des ATRX-Gens bei dem Sohn, wobei sich eine bislang noch nicht beschriebene Mutation in Exon 34 fand.

Abstract

Alpha-thalassemia X-linked mental retardation (ATRX, MIM#301040) syndrome is associated with severe mental retardation, muscular hypotonia, facial dysmorphism, and genital anomalies in males. We present the case of a family with two affected boys. The diagnosis was made by maternal X-chromosome inactivation studies which showed marked skewing of maternal X-chromosome inactivation and ATRX analysis revealed a novel mutation in exon 34.

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Literatur

  1. Abidi FE, Cardoso C, Lossi AM et al (2005) Mutation in the 5‘ alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet 13:176–183

    Article  CAS  PubMed  Google Scholar 

  2. Friez MJ, Jones JR, Clarkson K et al (2006) Recurrent infections, hypotonia and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 118:e1687–e1695

    Article  PubMed  Google Scholar 

  3. Gibbons RJ, Higgs DR (2000) Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 97:204–212

    Article  CAS  PubMed  Google Scholar 

  4. Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80:837–845

    Article  CAS  PubMed  Google Scholar 

  5. Martucciello G, Lombardi L, Savasta S, Gibbons RJ (2006) Gastrointestinal phenotype of ATR-X syndrome. Am J Med Genet 140 A:1172–1176

    Article  Google Scholar 

  6. Raymond FL (2006) X linked mental retardation: a clinical guide. J Med Genet 43:193–200

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Institut für Humangenetik, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 366, 69120, Heidelberg, Deutschland

    N. Dikow, K. Hinderhofer & U. Moog

  2. Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Deutschland

    C. Junge & U.G. Froster

  3. Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Heidelberg, Deutschland

    S. Karch

Authors
  1. N. Dikow
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  2. C. Junge
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  3. S. Karch
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  4. K. Hinderhofer
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  5. U.G. Froster
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  6. U. Moog
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Corresponding author

Correspondence to N. Dikow.

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Dikow, N., Junge, C., Karch, S. et al. Alpha-Thalassämie-Retardierungs-Syndrom . Monatsschr Kinderheilkd 158, 1248–1251 (2010). https://doi.org/10.1007/s00112-010-2244-y

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  • DOI: https://doi.org/10.1007/s00112-010-2244-y

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