期刊
HUMAN MUTATION
卷 35, 期 7, 页码 824-827出版社
WILEY-BLACKWELL
DOI: 10.1002/humu.22563
关键词
TCIRG1; congenital neutropenia; SCN; V-ATPase
资金
- NIH [1U54HG006493]
- NIH/NIAID [5R 24AI049393-09, T32 GM007454]
- Washington State Life Sciences for University of Washington Northwest Institute of Genetic Medicine [2065508]
Severe congenital neutropenia (SCN) is a rare hematopoietic disorder, with estimated incidence of 1 in 200,000 individuals of European descent, many cases of which are inherited in an autosomal dominant pattern. Despite the fact that several causal genes have been identified, the genetic basis for >30% of cases remains unknown. We report a five-generation family segregating a novel single nucleotide variant (SNV) in TCIRG1. There is perfect cosegregation of the SNV with congenital neutropenia in this family; all 11 affected, but none of the unaffected, individuals carry this novel SNV. Western blot analysis show reduced levels of TCIRG1 protein in affected individuals, compared to healthy controls. Two unrelated patients with SCN, identified by independent investigators, are heterozygous for different, rare, highly conserved, coding variants in TCIRG1.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据