Title: Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Authors: Freude, Kristine ×
Hoffmann, Kirsten
Jensen, Lars-Riff
Delatycki, Martin B
des Portes, Vincent
Moser, Bettina
Hamel, Ben
van Bokhoven, Hans
Moraine, Claude
Fryns, Jean-Pierre
Chelly, Jamel
Gécz, Jozef
Lenzner, Steffen
Kalscheuer, Vera M
Ropers, Hans-Hilger #
Issue Date: Aug-2004
Series Title: American Journal of Human Genetics vol:75 issue:2 pages:305-9
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 approximately 30% 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.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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