IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family.
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.
Department of Pediatrics, Hanyang University Medical Center, Seoul, Korea.
Seong-Ho
SH
Yoon
Taeshik
T
Cho
Hee-Jin
HJ
Kim
Sun-Young
SY
Kim
Jeong-Hee
JH
Ko
Hey-Sung
HS
Baek
Hyun-Ju
HJ
Lee
Chul-Hoon
CH
Lee
D000293:Adolescent; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007723:Korea; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis; D013921:Thrombocytopenia / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
D051316:Wiskott-Aldrich Syndrome Protein