Spinocerebellar Ataxia 37 (DAB1)
| Dred_ID | RD00064 |
| OMIM ID | 615945 |
| Disease name | Spinocerebellar Ataxia 37 |
| Alternative names | SCA37 |
| Category | Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases |
| Phenotype | OMIM: Spinocerebellar ataxia-37 (SCA37) is an autosomal dominant neurologic disorder characterized by adult onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging (summary by Seixas et al., 2017). |
| Miscellaneouse | OMIM: slowly progressive some patients become wheelchair-bound de novo mutation in some patients mean age at onset 48 years (range late teens to early 60s) family a is of spanish descent and was the first described family vertical eye movement abnormalities appear before horizontal eye movement abnormalities (family a) increased frequency among families from southern portugal |
| Prevalence | Prevalence: <1/1000000 (Worldwide) [source: MalaCards] |
| Inheritance | Autosomal dominant |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | DAB1 |
| Alias symbols | DAB1; SCA37 |
| Gene name | DAB1; reelin adaptor protein |
| Gene map locus | 1p32.2; chr1:56,994,778-58,546,734(-) |
| Ensembl Gene ID | ENSG00000173406 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017] |
| Repeat unit | TTTCA/TTTTA |
| Normal repeat copies | 7-400(TTTTA) |
| Pathogenic repeat copies | ≥31 |
| Gene | DAB1 |
| Repeat location | intron |
| Chromosome locus | chr1:57367041-57367118 (-) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | In vitro cellular expression studies showed that the ATTTC(n) insertion resulted in the formation of abnormal RNA aggregates with a nuclear localization. Injection of RNA containing the pathologic DAB1 repeat insertion into zebrafish embryos resulted in developmental defects and increased lethality. [By OMIM] |
| Pathway annotation | Reactome, KEGG |
| PMID | 29939198 |
| Authors | Marc Corral-Juan, Ivelisse Sanchez, Antoni Matilla-Duenas |
| Title | Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37 |
| Journal | Brain |
| Year | 2018 |