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  A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

Budny, B., Chen, W., Omran, H., Fliegauf, M., Tzschach, A., Wisniewska, M., et al. (2006). A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Human Genetics, 120(2), 171-178. doi:10.1007/s00439-006-0210-5.

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Genre: Zeitschriftenartikel
Alternativer Titel : Hum. Gen.

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 Urheber:
Budny, Bartlomiej1, Autor
Chen, Wei2, Autor           
Omran, Heymut, Autor
Fliegauf, Manfred, Autor
Tzschach, Andreas2, Autor           
Wisniewska, Marzena, Autor
Jensen, Lars R.3, Autor           
Raynaud, Martine, Autor
Shoichet, Sarah A.2, Autor           
Badura, Magda, Autor
Lenzner, Steffen1, Autor
Latos-Bielenska, Anna, Autor
Ropers, Hans-Hilger2, Autor           
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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 Zusammenfassung: We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. Mutations of OFD1 have been associated with oral–facial–digital type 1 syndrome (OFD1S) that is characterized by X-chromosomal dominant inheritance and lethality in males. In contrast, the carrier females of our family were clinically inconspicuous, and the affected males suffered from severe mental retardation, recurrent respiratory tract infections and macrocephaly. All but one of the affected males died from respiratory problems in infancy; and impaired ciliary motility was confirmed in the index patient by high-speed video microscopy examination of nasal epithelium. This family broadens the phenotypic spectrum of OFD1 mutations in an unexpected way and sheds light on the complexity of the underlying disease mechanisms. Electronic Supplementary Material Supplementary material is available to authorised users in the online version of this article at http://dx.doi.org/10.1007/s00439-006-0210-5.

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Sprache(n): eng - English
 Datum: 2006-06-17
 Publikationsstatus: Erschienen
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 Identifikatoren: eDoc: 307327
DOI: 10.1007/s00439-006-0210-5
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Titel: Human Genetics
  Alternativer Titel : Hum. Gen.
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 120 (2) Artikelnummer: - Start- / Endseite: 171 - 178 Identifikator: ISSN: 0340-6717