Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/6908
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dc.contributor.authorFreude, K.en
dc.contributor.authorHoffmann, K.en
dc.contributor.authorJensen, L.en
dc.contributor.authorDelatycki, M.en
dc.contributor.authordes Portes, V.en
dc.contributor.authorMoser, B.en
dc.contributor.authorHamel, B.en
dc.contributor.authorvan Bokhoven, H.en
dc.contributor.authorMoraine, C.en
dc.contributor.authorFryns, J.en
dc.contributor.authorChelly, J.en
dc.contributor.authorGecz, J.en
dc.contributor.authorLenzner, S.en
dc.contributor.authorKalscheuer, V.en
dc.contributor.authorRopers, H.en
dc.date.issued2004en
dc.identifier.citationAmerican Journal of Human Genetics, 2004; 75(2):305-309en
dc.identifier.issn0002-9297en
dc.identifier.issn1537-6605en
dc.identifier.urihttp://hdl.handle.net/2440/6908-
dc.description.abstractNonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that not, vert, similar30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families—one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.en
dc.description.statementofresponsibilityKristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, Martin B. Delatycki,Vincent des Portes, Bettina Moser, Ben Hamel, Hans van Bokhoven, Claude Moraine, Jean-Pierre Fryns, Jamel Chelly, Jozef Gécz, Steffen Lenzner, Vera M. Kalscheuer, and Hans-Hilger Ropersen
dc.language.isoenen
dc.publisherUniv Chicago Pressen
dc.rightsCopyright © 2004 The American Society of Human Genetics Published by Elsevier Inc.en
dc.subjectChromosomes, Human, X; Humans; Mental Retardation, X-Linked; Methyltransferases; Nuclear Proteins; Blotting, Northern; Pedigree; Sequence Analysis, DNA; Molecular Sequence Data; Adult; Child, Preschool; Infant; Female; Maleen
dc.titleMutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationen
dc.typeJournal articleen
dc.identifier.rmid0020041352en
dc.identifier.doi10.1086/422507en
dc.identifier.pubid56359-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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