title: Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.
abstract: The ubiquilin-2 gene (UBQLN-2) is the only amyotrophic lateral sclerosis (ALS)-related gene mapping on the X chromosome. Mutations in the PXX domain of UBQLN-2 have been first described in ALS patients with a mutational frequency of 2.6% in familial ALS cases with no evidence of male-to-male transmission. Different populations have been further tested with mutations largely distributed in the gene and lower frequency of positive cases. To determine the genetic contribution of UBQLN-2 in frontotemporal lobar degeneration (FTLD) and FTLD-ALS, we screened a cohort of 136 French patients, identifying a missense variant (c.1006A>G; p.T336A) in 1 FTLD patient whose biological relevance to disease is questionable. We conclude that UBQLN-2 mutations related to ALS/FTLD are extremely rare in French FTLD and FTLD-ALS patients and should not be analyzed systematically.
authors.affiliation: Inserm, UMR_S975, CRICM; UPMC Univ Paris 06, UMR_S975; CNRS UMR 7225, Paris, France.
authors.forename: Serena
authors.initials: S
authors.lastname: Lattante
authors.forename: Isabelle
authors.initials: I
authors.lastname: Le Ber
authors.forename: Agnès
authors.initials: A
authors.lastname: Camuzat
authors.forename: Jérémie
authors.initials: J
authors.lastname: Pariente
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Edor
authors.initials: E
authors.lastname: Kabashi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D015331:Cohort Studies; D005602:France; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D014452:Ubiquitins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins; C405662:UBQLN2 protein, human; D014452:Ubiquitins