A transition in exon 9 in SH3BP2 gene was detected in the family,which led to a missensemutation(Arg 415 Pro).

• 该家系中的每位患者均存在SH3BP2基因的第9外显子的单碱基突变,导致编码第415位氨基酸的密码子由CGA 替换为CCA,其编码的氨基酸中精氨酸(Arg)变为脯氨酸(Pro)。