Targeted gene(s)/phenotype under study
ATXN1 (MIM: 601556); spinocerebellar ataxia type 1 (MIM: 164400)Name of the gene/phenotype
We identified two de novo truncating variants in ATXN1, in patients with neurodevelopmental disorders and without spinocerebellar ataxia. ATXN1 is known to cause spinocerebellar ataxia type 1 (SCA1) with a CAG triplet expansion mechanism (polyglutamin) leading to a gain-of-function mechanism.
To date, only one manuscript report 4 families (PMID: 28288114) with neurodevelopmental anomalies and also without SCA1. They suggest that a loss-of-function mechanism is the reason of this disorder, rather than a gain-of-function as described in SCA1.
Therefore, we are collecting ATXN1 truncating variants and CNV encompassing ATXN1, in patients with neurodevelopmental disorders / intellectual disability, and negative for another molecular cause.
We aim to increase our cohort and perform a genotype-phenotype correlation of these patients, to better delineate this syndrome.
Dr Frederic Tran-Mau-Them (MD, PhD)
Dr Quentin Thomas (MD)
UF6254 Innovation en Diagnostic Genomique des Maladies Rares
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: No (if de novo occurrence proven)
- Resampling of patients: No (if de novo occurrence proven)
- Linked to a translational/basic research project: No