Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Momeni, P. et al.

Momeni, Schymick, Jain, Cookson, Cairns, Greggio, Greenway, Berger, Pickering-Brown, Chi??, Fung, Holtzman, Huey, Wassermann, Adamson, Hutton, Rogaeva, St George-Hyslop, Rothstein, Hardiman, Grafman, Singleton, Hardy, Traynor,

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD.

BACKGROUND: A new locus for amyotrophic lateral sclerosis--frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p. METHODS: We identified chromosome 9p segregating haplotypes within two families with ALS-FTD (F476 and F2) and undertook mutational screening of candidate genes within this locus. RESULTS: Candidate gene sequencing at this locus revealed the presence of a disease segregating stop mutation (Q342X) in the intraflagellar transport 74 (IFT74) gene in family 476 (F476), but no mutation was detected within IFT74 in family 2 (F2). While neither family was sufficiently informative to definitively implicate or exclude IFT74 mutations as a cause of chromosome 9-linked ALS-FTD, the nature of the mutation observed within F476 (predicted to truncate the protein by 258 amino acids) led us to sequence the open reading frame of this gene in a large number of ALS and FTD cases (n = 420). An additional sequence variant (G58D) was found in a case of sporadic semantic dementia. I55L sequence variants were found in three other unrelated affected individuals, but this was also found in a single individual among 800 Human Diversity Gene Panel samples. CONCLUSION: Confirmation of the pathogenicity of IFT74 sequence variants will require screening of other chromosome 9p-linked families.[1]

References

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. Momeni, P., Schymick, J., Jain, S., Cookson, M.R., Cairns, N.J., Greggio, E., Greenway, M.J., Berger, S., Pickering-Brown, S., Chi??, A., Fung, H.C., Holtzman, D.M., Huey, E.D., Wassermann, E.M., Adamson, J., Hutton, M.L., Rogaeva, E., St George-Hyslop, P., Rothstein, J.D., Hardiman, O., Grafman, J., Singleton, A., Hardy, J., Traynor, B.J. BMC neurology (2006) [Pubmed]

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