1个北方汉族家族性免疫球蛋白A肾病的家系分析和致病基因诊断

Pedigree analysis and pathogenic genetic diagnosis of familial immunoglobulin A nephropathy in a Han family from northern China

目的研究1个家族性免疫球蛋白A(IgA)肾病的家系,并分析其致病基因。方法调查1个家族性IgA肾病的家系,收集该家系成员的外周血提取基因组DNA,通过全外显子组测序寻找致病基因。结果该家系共有5代26名成员,其中有12名成员临床表现为肾脏受累,6名成员临床表现为蛋白尿,3名成员临床表现为镜下血尿,3名成员肾脏病理活检诊断为系膜增生性IgA肾病。家系先证者基因组DNA行全外显子组测序发现INF2基因c.653G>A(p.R218Q)突变。结论此家系存在家族性IgA肾病,全外显子组测序发现INF2基因c.653G>A(p.R218Q)突变,该突变为致病突变。

Objective To study a pedigree with familial immunoglobulin A(IgA)nephropathy and analyze its pathogenic genes.Methods A pedigree with familial IgA nephropathy was investigated,genomic DNA was collected from the peripheral blood of the family members,and the pathogenic genes were searched for by whole exome sequencing.Results There were 26 members in 5 generations in the pedigree,of which 12 members showed the clinical manifestation of renal involvement,6 members showed proteinuria,3 members showed microscopic hematuria,and 3 members were diagnosed with mesangial proliferative IgA nephropathy by renal pathological biopsy.The INF2 gene mutation of c.653G≥A(p.R218Q)was found in the proband by whole exome sequencing of genomic DNA.ConclusionsFamilial IgA nephropathy was found in this pedigree,and whole exome sequencing revealed the INF2 gene mutation of c.653G>A(p.R218Q),which was pathogenic.