Gene/phenotype/disorder under study
TBL1XR1 (Gene/Locus MIM: *608628)
Abstract
TBL1XR1-related disorders are rare, clinically heterogeneous neurodevelopmental conditions associated with developmental delay and/or intellectual disability, epilepsy, autism spectrum features, speech and language impairment, hypotonia, behavioral difficulties, dysmorphic features, and movement disorders. This call aims to identify additional individuals and centers interested in collaboration. We welcome cases with pathogenic/likely pathogenic TBL1XR1 variants or copy-number variants; clinically compatible variants of uncertain significance may also be considered when phenotypic and familial segregation data are available. Depending on the number of cases identified, a prospective national and potentially international natural history study may subsequently be planned following ethics approval and informed consent. Interested colleagues are kindly invited to contact us.
Cases of interest
- Pathogenic/likely pathogenic TBL1XR1 variant or copy-number variant
- Clinically compatible variant of uncertain significance with phenotypic/segregation data
- Available core clinical and molecular information
Coordinating clinicians and institutions:
- Dr. Türkan UYGUR ŞAHİN, MD; turkanuygur@gmail.com – Department of Pediatric Neurology, Altınbaş University, Istanbul, Türkiye
- Prof. Dr. Pinar GENCPINAR, MD; pinargencpinar@gmail.com – Department of Pediatric Neurology, Izmir Katip Celebi University, Türkiye
- Prof. Dr. Semra HIZ KURUL, MD, PhD; semra.kurul@deu.edu.tr – Department of Pediatric Neurology, Dokuz Eylül University, İzmir, Türkiye
Initial information requested:
Anonymized genetic report; core clinical information; and, if available, EEG and brain MRI reports. Raw EEG/MRI data, DNA re-analysis, and patient re-sampling are not required. No translational/basic research link is planned at the initial stage.