Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/6908
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Type: Journal article
Title: Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Author: Freude, K.
Hoffmann, K.
Jensen, L.
Delatycki, M.
des Portes, V.
Moser, B.
Hamel, B.
van Bokhoven, H.
Moraine, C.
Fryns, J.
Chelly, J.
Gecz, J.
Lenzner, S.
Kalscheuer, V.
Ropers, H.
Citation: American Journal of Human Genetics, 2004; 75(2):305-309
Publisher: Univ Chicago Press
Issue Date: 2004
ISSN: 0002-9297
1537-6605
Statement of
Responsibility: 
Kristine 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 Ropers
Abstract: Nonsyndromic 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.
Keywords: Chromosomes, Human, X; Humans; Mental Retardation, X-Linked; Methyltransferases; Nuclear Proteins; Blotting, Northern; Pedigree; Sequence Analysis, DNA; Molecular Sequence Data; Adult; Child, Preschool; Infant; Female; Male
Rights: Copyright © 2004 The American Society of Human Genetics Published by Elsevier Inc.
RMID: 0020041352
DOI: 10.1086/422507
Appears in Collections:Paediatrics publications

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