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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.identifier.citationAmerican Journal of Human Genetics, 2004; 75(2):305-309en
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.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
pubs.library.collectionPaediatrics publicationsen
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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