Premium
IVS6+5G>A found in Wiskott–Aldrich syndrome and X‐linked thrombocytopenia in a Korean family
Author(s) -
Yoon SeongHo,
Cho Taeshik,
Kim HeeJin,
Kim SunYoung,
Ko JeongHee,
Baek HeySung,
Lee HyunJu,
Lee ChulHoon
Publication year - 2012
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.23377
Subject(s) - proband , wiskott–aldrich syndrome , medicine , cousin , mutation , phenotype , genetics , gene , biology , history , archaeology
Wiskott–Aldrich syndrome (WAS) and X‐linked thrombocytopenia (XLT) are caused by a mutation in the WAS gene on Xp11.22. We report two patients with IVS6+5G>A of WAS in a Korean family. The proband presented with classic WAS, whereas his maternal cousin had symptoms limited to XLT. Their mothers were proved to be carriers. The IVS6+5G>A mutation was reported to result in incomplete splicing of the donor site and typically associated with mild form of disease, XLT. Our observation of the intrafamilial variability of clinical manifestations of WAS further expands the genotype–phenotype correlations and suggests the presence of modifying genetic factors. Pediatr Blood Cancer 2012; 58: 297–299. © 2011 Wiley Periodicals, Inc.