Bibliographic Details
| Title: |
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD |
| Authors: |
Rogaeva Ekaterina, Hutton Michael L, Adamson Jennifer, Wassermann Eric M, Huey Edward D, Holtzman David M, Fung Hon, Chiò Adriano, Pickering-Brown Stuart, Berger Stephen, Greenway Matthew J, Greggio Elisa, Cairns Nigel J, Cookson Mark R, Jain Shushant, Schymick Jennifer, Momeni Parastoo, St George-Hyslop Peter, Rothstein Jeffrey D, Hardiman Orla, Grafman Jordan, Singleton Andrew, Hardy John, Traynor Bryan J |
| Source: |
BMC Neurology, Vol 6, Iss 1, p 44 (2006) |
| Publisher Information: |
BMC, 2006. |
| Publication Year: |
2006 |
| Collection: |
LCC:Neurology. Diseases of the nervous system |
| Subject Terms: |
Neurology. Diseases of the nervous system, RC346-429 |
| More Details: |
Abstract 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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1471-2377 |
| Relation: |
http://www.biomedcentral.com/1471-2377/6/44; https://doaj.org/toc/1471-2377 |
| DOI: |
10.1186/1471-2377-6-44 |
| Access URL: |
https://doaj.org/article/ddfa16b0fe0040538ac1b5136221f70f |
| Accession Number: |
edsdoj.fa16b0fe0040538ac1b5136221f70f |
| Database: |
Directory of Open Access Journals |
