Hereditary ataxia

Gene: DAB1

Associated with phenotype in OMIM, not in G2P. At least one variant reported in six Portuguese families with shared haplotype

Created: 5 Sep 2017, 2:02 p.m.

Red List (low evidence)

Newly discovered repeat expansion in three families with autosomal dominant pure cerebellar ataxia. The expansion is located in the 5'UTR of the DAB1 gene, and comprises a (ATTTC)n
insertion within the simple ATTTT/AAAAT repeat at nucleotide 57,832,716 on chromosome 1 (hg19). The pathological (ATTTC)n insertion, ranges from 31 to 75 repeats and is always flanked by (ATTTT)n tracts larger than 58 repeat. Of note, the normal alleles do not contain the pathological ATTTC repeat insertion and comprised 7–400 ATTTT repeat (most frequencty ~30 repeats).

Created: 7 Jul 2017, 9:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 37 615945

Publications

• Seixas et al., 2017, AJHG (does not have a PMID yet)

Mode of pathogenicity
Other