Progranulin mutations in Dutch familial frontotemporal lobar degeneration.
Mutations in the progranulin (PGRN) gene have recently been identified in frontotemporal lobar degeneration with ubiquitin inclusions linked to chromosome 17q21. We report here the finding of two novel frameshift mutations and three possible pathogenic missense mutations in the PGRN gene. Furthermore, we determined the frequency of PGRN mutations in familial cases recruited from a large population-based study of frontotemporal lobar degeneration carried out in The Netherlands.
Bronner
Iraad F
IF
Department of Human Genetics, Section Medical Genomics, VU University Medical Center and VU University, Amsterdam, The Netherlands.
Rizzu
Patrizia
P
Seelaar
Harro
H
van Mil
Saskia E
SE
Anar
Burcu
B
Azmani
Asma
A
Donker Kaat
Laura
L
Rosso
Sonia
S
Heutink
Peter
P
van Swieten
John C
JC
D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D018389:Codon, Nonsense; D003704:Dementia / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009426:Netherlands; D010375:Pedigree; D000077153:Progranulins
D018389:Codon, Nonsense; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins