IVS6+5G > A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family

초록

WiskottAldrich 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 genotypephenotype correlations and suggests the presence of modifying genetic factors. Pediatr Blood Cancer 2012; 58: 297299. (C) 2011 Wiley Periodicals, Inc.

키워드