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A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing

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Author(s)
Ye jee ShimSo yun ParkNani JungHeung Sik KimJung-Sook HaJa-Hyun Jang
Publication Year
2018
Keyword
exome sequencingnext-generation sequencingvon Willebrand disease
Abstract
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.
Department
Dept. of Pediatrics (소아청소년학)
Dept. of Laboratory Medicine (진단검사의학)
Publisher
School of Medicine (의과대학)
Citation
Pediatric Blood & Cancer, Vol.65(10) : e27279-e27279, 2018
Type
Article
ISSN
1545-5017
DOI
10.1002/pbc.27279
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/41723
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