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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 307327.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
Authors:Budny, Bartlomiej; Chen, Wei; Omran, Heymut; Fliegauf, Manfred; Tzschach, Andreas; Wisniewska, Marzena; Jensen, Lars R.; Raynaud, Martine; Shoichet, Sarah A.; Badura, Magda; Lenzner, Steffen; Latos-Bielenska, Anna; Ropers, Hans-Hilger
Language:English
Date of Publication (YYYY-MM-DD):2006-06-17
Title of Journal:Human Genetics
Journal Abbrev.:Hum. Gen.
Volume:120
Issue / Number:2
Start Page:171
End Page:178
Copyright:© Springer. Part of Springer Science+Business Media
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Comment of the Author/Creator:Hans-Hilger Ropers
Email: ropers@molgen.mpg.de
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.University of Medical Sciences in Poznan, Poznan, Poland;
2.Department of Pediatric Neurology and Muscle Disorders, Albert-Ludwigs-University, Freiburg, Germany;
3.Service de Génétique et INSERM U316, Hôpital Bretonneau, Tours Cedex 1, 37044, France.
Identifiers:ISSN:0340-6717
DOI:10.1007/s00439-006-0210-5
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