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



  history
ID: 532417.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
Authors:Budny, B.; Badura-Stronka, M.; Materna-Kiryluk, A.; Tzschach, Andreas; Raynaud, M.; Latos-Bielenska, A.; Ropers, Hans-Hilger
Language:English
Date of Publication (YYYY-MM-DD):2010-03-19
Title of Journal:Clinical Genetics: an International Journal of Genetics in Medicine
Journal Abbrev.:Clin. Genet.
Volume:77
Issue / Number:6
Start Page:541
End Page:551
Copyright:© 2010 John Wiley & Sons A/S
Review Status:not specified
Audience:Experts Only
Abstract / Description:Recently, a truncating mutation of the UBE2A gene has been observed in a family with X-linked mental retardation (XLMR) (1). The three affected males had similar phenotypes, including seizures, obesity, marked hirsutism and a characteristic facial appearance. Here, we report on two families with a total of seven patients and a clinically very similar syndromic form of XLMR. Linkage analysis was performed in the larger of these families, and screening several positional candidate genes revealed a G23R missense mutation in the UBE2A gene. Subsequent UBE2A screening of a phenotypically similar second family revealed another missense mutation, R11Q, again affecting an evolutionarily conserved amino acid close to the N-terminus of the protein. SIFT and PolyPhen analyses suggest that both mutations are pathogenic, which is supported by their absence in 168 healthy controls. Thus, both missense and truncating mutations can give rise to a specific, syndromic form of XLMR which is identifiable in a clinical setting.
Free Keywords:intellectual disability;
mental retardation;
novel syndrome;
UBE2A;
ubiquitination;
X-linkage
Comment of the Author/Creator:Correspondence: Bartlomiej Budny, Poznan University of Medical Sciences, ul. Grunwaldzka 55 paw.15, 60-352 Poznań, Tel. +48 61 854 73 45, Fax. +48 61 854 73 48. email: bbudny@amp.edu.pl
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Poznan University of Medical Sciences, Poznan, Poland;
2.Unite de Génétique, Hôpital Bretonneau, Tours, France.
Identifiers:URL:http://onlinelibrary.wiley.com/doi/10.1111/j.1399-...
ISSN:1399-0004
DOI:10.1111/j.1399-0004.2010.01429.x
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