Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases.
Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD) in many families. Different frequencies of these genetic changes have been reported in diverse populations leading us to determine if these mutations were a major cause of FTD in the Portuguese population. The entire coding sequence plus exon 0 of PGRN were sequenced in a consecutive series of 46 FTD/CBS Portuguese patients. Two mutations were found: a novel pathogenic insertion (p.Gln300GlnfsX61) and a previously described point variant (p.T182M) of unclear pathogenicity. Pathogenic mutations in the PGRN gene were found in one of the 36 probands studied (3% of the probands in our series) who had a corticobasal syndrome presentation, indicating that in the Portuguese population, mutations in this gene are not a major cause of FTD.
Guerreiro
Rita Joao
RJ
Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Center, Bethesda, Maryland 20852, USA. portalegrer@nia.nih.gov
Santana
Isabel
I
Bras
Jose Miguel
JM
Revesz
Tamas
T
Rebelo
Olinda
O
Ribeiro
Maria Helena
MH
Santiago
Beatriz
B
Oliveira
Catarina Resende
CR
Singleton
Andrew
A
Hardy
John
J
D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000378:metabolism; D003704:Dementia / Q000235:genetics* / Q000378:metabolism; D005192:Family Health; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011174:Portugal / Q000453:epidemiology; D000077153:Progranulins
D004268:DNA-Binding Proteins; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins