A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing
- Ye jee Shim; So yun Park; Nani Jung; Heung Sik Kim; Jung-Sook Ha; Ja-Hyun Jang
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- exome sequencing; next-generation sequencing; von Willebrand disease
- A 10-year-old male and his family members visited a pediatric hematology clinic due to coagulopathy. Laboratory tests indicated vonWillebrand disease (vWD) in all the family members. We conducted diagnostic exome sequencing for confirmation. The patient was confirmed to be a compoun heterozygote for vWD: c.2574C > G (p.Cys858Trp) from his father (known variant ofvWD type 1) and c.3390C > T (p.Pro1127_Gly1180delinsArg) from his mother (variant known to result in exon 26 skipping in vWD type 2A). He was managed with factor VIII and von Willebrand factor complex concentrate during palatoplasty due to bleeding despite pre-operative desmopressin injection. The operation was completed successfully.
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