Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing.

Nicolas ChatronCaroline Schluth-BolardMathilde FrétignyAudrey LabalmeGaëlle VilchezSabine-Marie CastetClaude NégrierDamien SanlavilleChristine VinciguerraYohann Jourdy

Published in: Journal of thrombosis and haemostasis : JTH (2019)

We characterized a novel genomic rearrangement in which a 3.8-Mb Xq11.1q12 gain inserted in the F8 intron 25 led to an aberrant fusion transcript in a patient with severe hemophilia A (HA), using comprehensive molecular techniques. This study highlights the value of single-molecule long-read sequencing technologies for molecular diagnosis of HA especially when conventional genetic approaches have failed.

Keyphrases

single molecule
copy number
atomic force microscopy
living cells
single cell
early onset
case report
genome wide
drug induced
dna methylation