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A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing
Author(s) -
Shim Ye Jee,
Park So Yun,
Jung Nani,
Kim Heung Sik,
Ha JungSook,
Jang JaHyun
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27279
Subject(s) - medicine , von willebrand disease , exome sequencing , von willebrand factor , coagulopathy , compound heterozygosity , pediatrics , genetics , allele , gene , mutation , platelet , biology
A 10‐year‐old male and his family members visited a pediatric hematology clinic due to coagulopathy. Laboratory tests indicated von Willebrand disease (vWD) in all the family members. We conducted diagnostic exome sequencing for confirmation. The patient was confirmed to be a compound heterozygote for vWD: c.2574C > G (p.Cys858Trp) from his father (known variant of vWD 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.