Gene/phenotype/disorder under study
BUB1 (MIM*602452), BUB1B (MIM*602860), CEP57 (MIM*607951), TRIP13 (MIM*604507), MAD1L1 (MIM*602686), MAD2L1BP (MIM*618136), CENATAC/CCDC84(MIM*620142), SLF2 (MIM*610348), SMC5 (MIM*609386), CEP192 (MIM*616426)
Abstract
Mosaic variegated aneuploidy syndromes (MVAs) are a group of disorders associated with chromosome mis-segregation during anaphase, leading to cancer predisposition and multiple congenital anomalies, including microcephaly, neurodevelopmental disorders, and variable malformations.
We aim to conduct a large-scale clinical study to establish genotype-phenotype correlations in MVAs. To this end, we would like to include new patients carrying biallelic variants in the following genes: BUB1, BUB1B, CEP57, TRIP13, MAD1L1, MAD2L1BP, CENATAC (CCDC84), SLF2, SMC5, CEP192. We thank you for your interest in this new project.
Coordinating clinicians
Dr Silvestre CUINAT – silvestre.cuinat@inserm.fr
Dr Audrey PUTOUX – audrey.putoux@chu-lyon.fr
Institution
Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Hospices Civils de Lyon, Lyon
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No