Canis lupus familiaris isolate:Brandy | breed:German Shepherd Raw sequence reads
Haemophilia A is an extremely rare disorder in females, as the causative F8 gene is located on the X chromosome. In the present case, a female dog with a mild form of haemophilia A is described. To identify a causative variant in the F8 gene, whole-genome sequencing was performed on the affected dog. A previously unreported homozygous missense variant was identified in exon 11 of the F8 gene, resulting in an amino acid substitution within the A2 domain of factor VIII, a region critical for the stability and function of the coagulation factor.