中国循证儿科杂志2013，Vol.8Issue(3)：192-196,5.DOI:10.3969/j.issn.1673-5501.2013.03.007
常染色体显性局灶节段肾小球硬化一家系INF2基因及临床特征
Clinical characteristics and INF2 gene mutation analysis in a family with autosomal dominant focal segmental glomerulosclerosis
摘要
Abstract
Objective To investigate pathogenic gene of autosomal dominant focal segmental glomerulosclerosis( AD-FSGS ). Methods Clinical data of an AD-FSGS family were collected and analyzed. Urine screening was given to all members of the family. Peripheral blood was taken from all members of the family. Sequencing of all exons of ACTN4, TRPC6 and INF2 and exon 8, 9 of WT1 was performed for 7 members of the family. Changes in protein structure and function caused by mutant coding sequence were analyzed by online NCBI ( The National Center for Biotechnology Information ). Results The clinical feature of the family was consistent with characteristics of AD-FSGS. No pathogenic mutation in ACTN4, TRPC6 and WT1 was found. Five patients of the family had a deletion mutation( c. 1249delCCCCACCCCCAC, p. T420_P423del ) in INF2, which had not been reported before. This new mutation is located in the diaphanous inhibitory domain of the protein encoded by INF2. Conclusions c. 1249delCCCCACCCCCAC is a new mutation and may be the causal mutation of AD-FSGS in the family.关键词
局灶节段肾小球硬化/常染色体显性遗传/缺失/测序/INF2基因Key words
Focal segmental glomerulosclerosis/ Autosomal dominance/ Deletion/ Sequencing/ INF2 gene引用本文复制引用
李国民,刘海梅,陈径,曹琦,饶佳,高学武,徐虹,翟亦晖,沈茜,张晓娥,方晓燕,安宇,孙利..常染色体显性局灶节段肾小球硬化一家系INF2基因及临床特征[J].中国循证儿科杂志,2013,8(3):192-196,5.基金项目
复旦大学附属儿科医院人才工程-学科带头人(1125)培育计划项目 （1125）
2012复旦大学附属儿科医院科研项目 （）
