Amyotrophic lateral sclerosis 12
OMIM:613435Mode of inheritance:Multiple
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | OPTN |
|---|---|
| Reference transcript | NM_001008211.1 |
| DNA Change | c.691_692insAG |
| A.A. Change | p.Leu231* |
| Exon/Intron | exon 8 |
| Mutation Type | insertion |
| Reference | Goldstein O, Nayshool O, Nefussy B, Traynor BJ, Renton AE, Gana-Weisz M, Drory VE, Orr-Urtreger A.
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. Neurology. 2016 Feb 2;86(5):446-53. doi: 10.1212/WNL.0000000000002334. Epub 2016 Jan 6. |