Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome
Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome
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DOI：
10.1007/s00467-015-3189-0
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发表时间：
2015-12-01
影响因子：
3
通讯作者：
Bagga, Arvind
中科院分区：
文献类型：
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作者：
Bhatia, Divya;Khandelwal, Priyanka;Bagga, Arvind
我们报告两个兄弟姐妹的特征提示溶血性尿毒症综合征。利用流式细胞术和基因测序技术对该家族成员的CD46表达进行了估计。三个兄弟姐妹，其中两个有症状，CD46细胞表面表达明显下降（< 10%），CD46基因纯合剪接位点突变（IVS2 + 2 T > G）；另一名10岁的兄弟姐妹无症状。该病例在发病前曾出现登革休克综合征。对于这种CD46突变，父母和其他两个兄弟姐妹都是杂合的。CD46基因纯合子IVS2 + 2 T > G突变类似于杂合子突变，至少在儿童期可能是临床沉默的。先前感染在引发该病中的作用需要进一步检查。
We report on two siblings with features suggestive of hemolytic uremic syndrome. Estimation of CD46 expression by flow cytometry and gene sequencing were performed in members of this family.Three siblings, two of whom were symptomatic, had markedly decreased (< 10 %) cell surface expression of CD46 and homozygous splice site mutation (IVS2 + 2 T > G) in the CD46 gene; the other 10-year-old sibling was asymptomatic. The illness was preceded by dengue shock syndrome in the index case. Both parents and two other siblings were heterozygous for this CD46 mutation.Homozygous IVS2 + 2 T > G mutation in CD46 gene, similar to heterozygous mutation, may be clinically silent at least during childhood. The role of antecedent infections in triggering the disease requires further examination.