Article
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.
Scientific reports - 9 Mar 2017
Kamath-Loeb Ashwini S, Zavala-van Rankin Diego G, Flores-Morales Jeny, Emond Mary J, Sidorova Julia M, Carnevale Alessandra, Cárdenas-Cortés Maria Del Carmen, Norwood Thomas H, Monnat Raymond J, Loeb Lawrence A, Mercado-Celis Gabriela E
Abstract excerpt
Loss-of-function mutations in the WRN helicase gene cause Werner syndrome- a progeroid syndrome with an elevated risk of cancer and other age-associated diseases. Large numbers of single nucleotide polymorphisms have been identified in WRN. We report here the organismal, cellular, and molecular phenotypes of variant rs3087425 (c. 2500C > T) that results in an arginine to cysteine substitution at residue 834...
Topics
- Adolescent
- Adult
- Aged
- Amino Acid Substitution
- Family
- Female
- Homozygote
- Humans
- Male
- Middle Aged
- Mutation, Missense