Gene/disorder under study
ASH1L-related disorder (ASH1L-RD, MIM 617796)
Abstract
We are seeking collaborators for a research project on ASH1L-related disorder (ASH1L-RD, MIM 617796), a rare autosomal dominant neurodevelopmental condition.
This study aims to expand the clinical and molecular spectrum of ASH1L-RD and to identify a potential epigenetic signature associated with pathogenic variants in ASH1L.
We are currently recruiting unpublished individuals with a heterozygous pathogenic or likely pathogenic variant (class 4 or 5) in ASH1L.
Inclusion criteria:
– Heterozygous ASH1L variant (SNV or SV) classified as pathogenic (class 5) or likely
pathogenic (class 4)
– Patient not previously reported in the literature
To provide:
– Completed clinical data sheet (to be sent upon request)
– Clinical photographs with signed consent for publication
– DNA sample
This study is conducted by Dr. Quentin SABBAGH under the supervision of Prof.
David GENEVIEVE (Department of Clinical Genetics, University Hospital of Montpellier,
France).
Coordinating clinicians
Quentin SABBAGH – q-sabbagh@chu-montpellier.fr
David GENEVIEVE – d-genevieve@chu-montpellier.fr
Institution
Department of Clinical Genetics, University Hospital of Montpellier,
France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes