Article
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
Human molecular genetics - 15 Jan 2012
Weterman Marian A J, Sorrentino Vincenzo, Kasher Paul R, Jakobs Marja E, van Engelen Baziel G M, Fluiter Kees, de Wissel Marit B, Sizarov Aleksander, Nürnberg Gudrun, Nürnberg Peter, Zelcer Noam, Schelhaas H Jurgen, Baas Frank
Abstract excerpt
Despite the high number of genes identified in hereditary polyneuropathies/Charcot-Marie-Tooth (CMT) disease, the genetic defect in many families is still unknown. Here we report the identification of a new gene for autosomal dominant axonal neuropathy in a large three-generation family. Linkage analysis identified a 5 Mb region on 9q33-34 with a LOD score of 5.12. Sequence capture and next-generation sequencing...
Topics
- Chromosomes, Human, Pair 9
- Female
- Frameshift Mutation
- Genes, Dominant
- Humans
- Lod Score
- Male
- Pedigree
- Phenotype
- Polymorphism, Single Nucleotide