摘要
目的 探讨1例顽固性白细胞和血小板减少患儿家系FANCA基因突变的特点.方法 对患儿的临床表现及辅助检查结果进行分析,并对其家系行全外显子二代测序(next generation sequencing,NGS),并用多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)筛查FA NCA基因的大片段缺失.结果 患儿多次血常规检查提示白细胞(2.7~3.98)×109/L,血小板(33~81)×109/L,血红蛋白(100~120)g/L.NGS提示患儿及其母亲均携带FANCA基因c.3181A>G杂合变异(非致病性)以及c.3788_3790del杂合变异,MLPA检测提示患儿及其父亲均携带FANCA基因第11~14外显子大片段杂合缺失变异.结论 确诊了1例由FANCA基因c.3788_3790del以及第11~14外显子大片段缺失复合杂合突变导致的顽固性白细胞和血小板减少症.
Objective To explore the genetic basis of a child affected with refractory leukocytopenia and thrombocytopenia.Methods Clinical manifestation and auxiliary examination of the child were discussed.Whole exome next generation sequencing(NGS)and multiplex ligation-dependent probe amplification(MLPA)were used to detected potential mutations of the FANCA gene.Results Repeated blood tests indicated that the child had abnormal WBC count at(2.7-3.98)×109/L,platelet at(33-81)×109/L and hemoglobin at(100-120)g/L.NGS showed that she and her mother both carried a heterozygous c.3181A>G mutation(non-pathogenic)and a c.3788_3790del mutation of the FANCA gene.MLPA showed that she and her father both had heterozygous deletion of exons 11 to 14 of the FANCA gene.Conclusion The compound heterozygous mutations of c.3788_3790del and deletion of exons 11 to 14 of the FANCA gene probably underlie the refractory leukocytopenia and thrombocytopenia in the child.
作者
夏乐
逯军
Xia Le;Lu Jun(Department of Pediatrics,Haikou Hospital Affiliated to Central South University Xiangya School of Medicine,Haikou,Hainan 570208,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第5期468-471,共4页
Chinese Journal of Medical Genetics
