| Gene | DCTN1 |
| Gene name | dynactin subunit 1 |
| Number variants ALSoD | 18 |
| Number people with mutation ALSoD | 6 |
| Number of papers ALSoD | 11 |
| Chromosomal location | 2p13.1 |
| Protein | Dynactin subunit 1 |
| Discovery method | Linkage analysis |
| Hg19 start-end | 74588281-74619214 |
| Hg38 start-end | 74361154-74392087 |
| Category | Tenuous |
| Evidence summary | A number of DCTN1 variants of unknown significance have been found in patients. DCTN1 mutations were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive pathology (1). DCTN1 mutations were identified in a family with lower motor neuron disease, in amyotrophic lateral sclerosis, and in a family with ALS-frontotemporal dementia (FTD) (1, 2). DCTN1 mutations have not been found to segregate with the disease in ALS families. DCTN1 mutations are rare in ALS patients and their causal role is yet to be proven (1) |
| Review references | (1)https://pubmed.ncbi.nlm.nih.gov/19506225/ (2)http://www.nature.com/ng/journal/v33/n4/full/ng1123.html |
| Mnemonic | Chromosome | Position hg19 | HGVS | Pubmed links | # publications | # patients |
|---|---|---|---|---|---|---|
| A933V | 2 | 74593108 | NM_004082.5:c.2798C>T | 28792508 | 1 | 0 |
| c.2887-2A>G | 2 | 74592786 | NM_004082.5:c.2887-2A>G | 23881933 | 1 | 0 |
| E737K | 2 | 74594523 | NM_004082.5:c.2209G>A | 25299611 | 1 | 0 |
| G59R | 2 | 74605231 | NM_004082.5:c.175G>C | 23155438 | 1 | 0 |
| G59S | 2 | 74605231 | NM_004082.5:c.175G>A | 25109764 12627231 | 2 | 0 |
| H1270Q | 2 | 74588653 | NM_004082.5:c.3810C>A | 25382069 | 1 | 0 |
| H668Y | 2 | 74595111 | NM_004082.5:c.2002C>T | 25299611 | 1 | 0 |
| I195L | 2 | 74598726 | NM_004082.5:c.583A>C | 29650794 | 1 | 0 |
| M571T | 2 | 74595997 | NM_004082.4:c.1712T>C | 15326253 | 1 | 1 |
| P1084S | 2 | 74590516 | NM_004082.5:c.3250C>T | 25299611 | 1 | 0 |
| P211L | 2 | 74598677 | NM_004082.5:c.632C>T | 25299611 | 1 | 0 |
| R1101K | 2 | 74590464 | NM_004082.4:c.3302G>A | 16240349 | 1 | 2 |
| R623W | 2 | 74595246 | NM_004082.5:c.1867C>T | 28792508 | 1 | 0 |
| R785W | 2 | 74594023 | NM_004082.4:c.2353C>T | 15326253 | 1 | 2 |
| R997W | 2 | 74592682 | NM_004082.5:c.2989C>T | 18852346 | 1 | 0 |
| S1080F | 2 | 74590527 | NM_004082.5:c.3239C>T | 25382069 | 1 | 0 |
| S263I | 2 | 74598161 | NM_004082.5:c.788G>T | 25299611 | 1 | 0 |
| T1249I | 2 | 74588717 | NM_004082.4:c.3746C>T | 15326253 | 1 | 1 |
| Pubmed ID | First author | Year | Title | |
|---|---|---|---|---|
| 25382069 | Cady | 2015 | Amyotrophic lateral sclerosis onset is inuenced by the burden of rare variants in known amyotrophic lateral sclerosis genes | |
| 25299611 | Couthouis | 2014 | Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis. | |
| 23881933 | Kenna | 2013 | Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing | |
| 25109764 | Liu | 2014 | Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system | |
| 28792508 | Liu | 2017 | DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis | |
| 29650794 | Muller | 2018 | Comprehensive analysis of the mutation spectrum in 301 German ALS families | |
| 15326253 | Munch | 2004 | Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS | |
| 16240349 | Munch | 2005 | Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD | |
| 12627231 | Puls | 2003 | Mutant dynactin in motor neuron disease | |
| 18852346 | Takahashi | 2008 | Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis | |
| 23155438 | van Blitterswijk | 2012 | Genetic overlap between apparently sporadic motor neuron diseases |