Work

TCIRG1-Associated Congenital Neutropenia

Year: 2014

Type: article

Study design: Observational Study

Abstract: 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.

Source: Human Mutation

DOI: 10.1002/humu.22563

Authors: Vahagn Makaryan, Elisabeth A. Rosenthal, Audrey Anna Bolyard, Merideth L. Kelley, Jennifer E. Below, Michael J. Bamshad, Kathryn M. Bofferding, Joshua D. Smith, Kati Buckingham, Laurence A. Boxer, Julia Skokowa, Karl Welte, Deborah A. Nickerson, Gail P. Jarvik, David C. Dale

Institutions: University of Washington, University of Michigan, Medizinische Hochschule Hannover

Language: English

Topic: Blood disorders and treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Washington State University, University of Washington, National Institutes of Health, National Human Genome Research Institute, National Institute of General Medical Sciences, National Institute of Allergy and Infectious Diseases, National Center for Advancing Translational Sciences

Awards: UW Center for Mendelian Genomics, Re-Engineering Translational Research at the University of Chicago, Severe Chronic Neutropenia International Registry, UW Center for Mendelian Genomics, Medical Genetics Postdoctoral Fellowship

OpenAlex ID: W2097400790

FWCI: 2.846

Cites: 31

Cited by: 44

Related to: 10