1个PRF1基因复合杂合新变异致家族性噬血细胞综合征家系报告

Report of a family with familial phagocytic syndrome caused by a new compound heterozygous variant of the PRF1 gene

目的 探讨2例家族性噬血细胞综合征(FHL)患儿的临床特征和基因变异特点。方法 对2名患儿进行了回顾性研究,采用全外显子基因测序和Sanger测序进行了遗传变异和家系验证。结果 2例患儿均以传染性单核细胞增多症(IM)起病并在病程后期累及神经系统。全外显子基因检测结果显示2例患儿均携带PRF1基因第2外显子c.139G>T(p.G47C)和第3外显子c.1088C>A(p.A363D),家系中I1存在c.1088C>A(p.A363D)变异,家系中I2和II1存在c.139G>T(p.G47C),均是未报道过的新变异。结论 上述复合杂合变异是2名患儿的遗传病因,这2例患儿最终均被确诊为家族性噬血细胞综合征。

Objective To explorer the clinical features and gene variation characteristics of 2 children with familial hemophagocytic lymphohistiocytosis(FHL).Methods The clinical data of 2 children were retrospectively analyzed,and whole-exome gene sequencing and Sanger sequencing were used for variant locus analysis and family verification.Results Both cases were diagnosed with infectious mononucleosis(IM)and involved the nervous system in the later stage.The results of whole exon gene detection showed that the two children carried the second exon of PRF1 gene c.139G>T(p.G47C)and the third exon c.1088C>A(p.A363D),and there was A mutation of c.1088C>A(p.A363D)in I1.There were c.139G>T(p.G47C)in I2 and II1 in the pedigree,both of which were new mutations that had not been reported before.Conclusion The above compound heterozygous variant may be the genetic etiology of 2 children,both of whom were finally diagnosed with familial hemophagocytic syndrome.