Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.
Yohann JourdyN ChatronM FretignyM L CarageH ChambostS Claeyssens-DonadelV Roussel-RobertC NegrierD SanlavilleC VinciguerraPublished in: Haemophilia : the official journal of the World Federation of Hemophilia (2017)
Because several F8 neighbouring genes are associated with other pathologies such as XLID and cardiovascular disease, all HA patients where complex Xq28 rearrangement was suspected should be referred to a geneticist for possible utility of a pangenomic study. Such investigation should be carefully considered in genetic counselling in female carriers to assess the risk of transmitting severe HA with a "contiguous gene syndrome".
Keyphrases
- genome wide
- cardiovascular disease
- end stage renal disease
- copy number
- newly diagnosed
- ejection fraction
- chronic kidney disease
- dna methylation
- peritoneal dialysis
- early onset
- prognostic factors
- genome wide identification
- case report
- coronary artery disease
- metabolic syndrome
- cardiovascular risk factors
- transcription factor
- drug induced