title: Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
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.
authors.affiliation: Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
authors.forename: Kristine
authors.initials: K
authors.lastname: Freude
authors.forename: Kirsten
authors.initials: K
authors.lastname: Hoffmann
authors.forename: Lars-Riff
authors.initials: LR
authors.lastname: Jensen
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.forename: Vincent
authors.initials: V
authors.lastname: des Portes
authors.forename: Bettina
authors.initials: B
authors.lastname: Moser
authors.forename: Ben
authors.initials: B
authors.lastname: Hamel
authors.forename: Hans
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: Claude
authors.initials: C
authors.lastname: Moraine
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
authors.forename: Jozef
authors.initials: J
authors.lastname: Gécz
authors.forename: Steffen
authors.initials: S
authors.lastname: Lenzner
authors.forename: Vera M
authors.initials: VM
authors.lastname: Kalscheuer
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
mesh_terms: D000328:Adult; D015152:Blotting, Northern; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D008780:Methyltransferases / Q000235:genetics*; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D009687:Nuclear Proteins; C490101:FTSJ1 protein, human; D008780:Methyltransferases