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https://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. |
DOI: | 10.1086/422507 |
Published version: | http://dx.doi.org/10.1086/422507 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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