Gene/phenotype/disorder under study
19p13 deletion involving BRD4, NOTCH3, CYP4F22, and TPM4
Abstract
We previously identified a 1.4 Mb deletion at 19p13 involving the BRD4, NOTCH3, CYP4F22, and TPM4 genes. The clinical presentation is in line with the phenotype reported in the literature for BRD4-related disease.
In addition, features suggestive of a connective tissue disorder is present, including thoracic aortic dilatation, joint hypermobility, recurrent patellar dislocations, inguinal hernia, high-arched palate, and pes planus. Additional genetic investigations, including trio genome sequencing and targeted connective tissue disorder panels, have not identified any pathogenic variants that would explain this aspect of the phenotype. To our knowledge, an aortic or connective tissue phenotype has not previously been reported in association with this 19p13 deletion.
Our objective is to expand the number of cases with similar 19p13 deletions to determine whether aortic dilatation and connective tissue manifestations may represent part of the associated phenotypic spectrum.
Coordinating clinician
Trine Maxel Juul – trine.maxel.juul@rsyd.dk
Institution
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark
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