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;75(2):305-9. doi: 10.1086/422507. Epub 2004 May 25.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Northern
  • Child, Preschool
  • Chromosomes, Human, X*
  • Female
  • Humans
  • Infant
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Methyltransferases / genetics*
  • Molecular Sequence Data
  • Nuclear Proteins / genetics*
  • Pedigree
  • Sequence Analysis, DNA


  • Nuclear Proteins
  • FTSJ1 protein, human
  • Methyltransferases

Associated data

  • GENBANK/AAH23584
  • GENBANK/AF196972
  • GENBANK/BC023584
  • GENBANK/CAA06749