Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.

Am J Hum Genet 2004 Aug 25;75(2):305-9. Epub 2004 May 25.

Max-Planck-Institute for Molecular Genetics, Berlin, Germany.

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.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970762412
Publisher Site
http://dx.doi.org/10.1086/422507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1216064PMC
August 2004
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