F9基因、vWF基因突变致新生儿血友病B型一家系报道  

Analysis of a family with hemophilia B caused by F9 gene and vWF gene mutation and literature review

作　　者：李燕[1] 郭金将[1] 杨丽娟[1] 孙雪丽 赵国英[1] 罗瑶[1] LI Yan;GUO Jinjiang;YANG Lijuan;SUN Xueli;ZHAO Guoying;LUO Yao(Department of Neonatology,Binzhou Medical University Hospital,Binzhou,Shandong 256603,China)

机构地区：[1]滨州医学院附属医院新生儿科,山东滨州256603

出　　处：《中国优生与遗传杂志》2023年第10期2150-2153,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 报道1例F9基因、vWF基因变异导致新生儿血友病B型临床表现及全外显子测序结果,同时报道其家系全外显子测序结果,为早期诊断血友病B提供典型病例。方法 回顾性分析滨州医学院附属医院NICU2021年11月收治的1例血友病B型新生儿的临床资料及全外显子测序结果。结果 本例为1日龄血友病B型患儿,表现为生后全身瘀斑、出血点,凝血因子显示FⅨ1%。通过家系全外显子测序检测,发现患儿存在两处基因突变,一处来自F9基因,一处来自vWF基因。患儿母亲F9基因存在杂合变异。后利用NCBI在线保守结构域分析人F9蛋白、vWF蛋白,发现患儿F9基因突变导致F9蛋白的三个保守结构域功能缺失。结论 本研究新发现F9致病性变异:c.252+3_252+6del,vWF致病性变异:p.N573S,国内外尚未见报道。本例为血友病B的早期诊断提供典型病例,并扩展了F9基因、vWF基因突变谱。Objective To report the clinical manifestation and whole exon sequencing results of a case of neonatal hemophilia type B caused by F9 gene and vWF gene mutations,and to report the whole exon sequencing results of the family,providing a typical case for early diagnosis of hemophilia B.Methods A retrospective analysis was conducted on the clinical data and whole exon sequencing results of a newborn with hemophilia type B admitted to NICU affiliated hospital of Binzhou Medical University Hospital in November 2021.Results The results showed that this case was a 1-day-old child with hemophilia type B,presenting with postnatal systemic ecchymosis and bleeding points,and coagulation factors showing FⅨ1%.Through family wide exon sequencing,it was found that the child had two genetic mutations,one from the F9 gene and the other from the vWF gene.There is a heterozygous variation in the F9 gene of the mother of the child.Later,NCBI was used to analyze the conserved domains of human F9 protein and vWF protein,and it was found that mutations in the F9 gene in the child resulted in the functional loss of the three conserved domains of the F9 protein.Conclusion A novel pathogenic variant of F9 was found in this study:c.252+3_252+6del,vWF pathogenic variation:p.N573S,has not been reported domestically or internationally.This case provides a typical case for the early diagnosis of hemophilia B and expands the mutation spectrum of F9 gene and vWF gene.

关 键 词：F9突变 血友病B型 新生儿 全外显子测序 

分 类 号：R722.1[医药卫生—儿科]