Document Detail

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis.
MedLine Citation:
PMID:  23286752     Owner:  NLM     Status:  Publisher    
Rho guanine nucleotide exchange factor (RGNEF) is a novel NFL mRNA destabilizing factor that forms neuronal cytoplasmic inclusions in spinal motor neurons in both sporadic (SALS) and familial (FALS) ALS patients. Given the observation of genetic mutations in a number of mRNA binding proteins associated with ALS, including TDP-43, FUS/TLS and mtSOD1, we analysed the ARHGEF28 gene (approx. 316 kb) that encodes for RGNEF in FALS cases to determine if mutations were present. We performed genomic sequencing, copy number variation analysis using TaqMan real-time PCR and spinal motor neuron immunohistochemistry using a novel RGNEF antibody. In this limited sample of FALS cases (n=7) we identified a heterozygous mutation that is predicted to generate a premature truncated gene product. We also observed extensive regions of homozygosity in the ARHGEF28 gene in two FALS patients. In conclusion, our findings of genetic alterations in the ARHGEF28 gene in cases of FALS suggest that a more comprehensive genetic analysis would be warranted.
Cristian A Droppelmann; Jian Wang; Danae Campos-Melo; Brian Keller; Kathryn Volkening; Robert A Hegele; Michael J Strong
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-4
Journal Detail:
Title:  Amyotrophic lateral sclerosis and frontotemporal degeneration     Volume:  -     ISSN:  2167-9223     ISO Abbreviation:  Amyotroph Lateral Scler Frontotemporal Degener     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101587185     Medline TA:  Amyotroph Lateral Scler Frontotemporal Degener     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Molecular Brain Research Group, Robarts Research Institute , University of Western Ontario, London , Ontario.
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