Targeted syndrom under study
ABCA2 (OMIM # 618808)
Abstract
Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is caused by homozygous mutation in the ABCA2 gene (600047) on chromosome 9q34 and has a highly variable phenotype. We suspect that both bi- and monoallelic variants in ABCA2 can cause clinical problems (developmental delay, intellectual disability, seizures, abnormality of coordination, ataxia, autistic features). We hope to identify further individuals with ABCA2 variants to better define its phenotypic spectrum and phenotype-genotype correlation.
Coordinating clinicians/researchers
Karit Reinson, MD, Ph.D – Karit.Reinson@kliinikum.ee
Kaisa Teele Oja, MD – KaisaTeele.Oja@kliinikum.ee
Katrin Õunap, MD, Ph.D
Institution
Tartu University Hospital, Genetics and Personalized Medicine Clinic, Tartu
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: No
- Resampling of patients: Yes, if possible EDTA plasma for metabolomics analysis
- Linked to a translational/basic research project: No