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Start Over Author "Young, Kate" Journal neurobiology of aging
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4. Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.

Author

Rollinson S, Bennion Callister J, Young K, Ryan SJ, Druyeh R, Rohrer JD, Snowden J, Richardson A, Jones M, Harris J, Davidson Y, Robinson A, Ealing J, Johnson JO, Traynor B, Mead S, Mann D, and Pickering-Brown SM

Subjects
Adult, Aged, Aged, 80 and over, C9orf72 Protein, Cohort Studies, Female, Frontotemporal Lobar Degeneration epidemiology, Genetic Testing methods, Humans, Male, Middle Aged, Polymerase Chain Reaction methods, Sequence Analysis, DNA methods, Young Adult, DNA Repeat Expansion genetics, Frontotemporal Lobar Degeneration genetics, Gene Deletion, Heterozygote, Mutation genetics, Proteins genetics
Abstract

Frontotemporal lobar degeneration is a highly familial disease and the most common known genetic cause is the repeat expansion mutation in the gene C9orf72. We have identified 2 brothers with an expansion mutation in C9orf72 using Southern blotting that is undetectable using repeat-primed polymerase chain reaction. Sequencing using high concentrations of DNA denaturants of a bacterial artificial chromosome clone obtained from one of the brothers identified a 10-base pair deletion adjacent to the expansion that presumably confers strong secondary structure that interferes with the genotyping. Using an alternative method, we have identified missed expansion carriers in our cohort, and this number has increased by approximately 25%. This observation has important implications for patients undergoing genetic testing for C9orf72., (Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2015
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