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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.

SUBMITTER: Freude K 

PROVIDER: S-EPMC1216064 | biostudies-literature | 2004 Aug

REPOSITORIES: biostudies-literature

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

Freude Kristine K   Hoffmann Kirsten K   Jensen Lars-Riff LR   Delatycki Martin B MB   des Portes Vincent V   Moser Bettina B   Hamel Ben B   van Bokhoven Hans H   Moraine Claude C   Fryns Jean-Pierre JP   Chelly Jamel J   Gécz Jozef J   Lenzner Steffen S   Kalscheuer Vera M VM   Ropers Hans-Hilger HH  

American journal of human genetics 20040525 2

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 on  ...[more]

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