Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Perforin-1

The PRF1 gene encodes a protein which resemples complement factot 9 nad therefore suposedly play a role in cell lysis. Mutations result in autosomal recessive familial hemophagocytic lymphohistiocytosis 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Aplastic anemia
PRF1
Familial hemophagocytic lymphohistiocytosis 2
PRF1

References:

1.

Zur Stadt U et al. (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

external link
2.

Busiello R et al. (2004) Atypical features of familial hemophagocytic lymphohistiocytosis.

external link
3.

Molleran Lee S et al. (2004) Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.

external link
4.

Zur Stadt U et al. (2004) A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype.

external link
5.

Voskoboinik I et al. (2004) The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene.

external link
6.

Clementi R et al. (2004) Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.

external link
7.

Rieux-Laucat F et al. (2005) Autoimmune lymphoproliferative syndrome and perforin.

external link
8.

Clementi R et al. (2005) A proportion of patients with lymphoma may harbor mutations of the perforin gene.

external link
9.

Voskoboinik I et al. (2005) A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.

external link
10.

Ueda I et al. (2003) Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.

external link
11.

Risma KA et al. (2006) Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

external link
12.

Clementi R et al. (2006) Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.

external link
13.

Solomou EE et al. (2007) Perforin gene mutations in patients with acquired aplastic anemia.

external link
14.

Voskoboinik I et al. (2007) Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function.

external link
15.

Trizzino A et al. (2008) Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

external link
16.

Law RH et al. (2010) The structural basis for membrane binding and pore formation by lymphocyte perforin.

external link
17.

Chiapparini L et al. (2011) Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis.

external link
18.

Dias C et al. (2013) Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

external link
19.

Wagner R et al. (1995) A prospective study of CD45 isoform expression in haemophagocytic lymphohistiocytosis; an abnormal inherited immunophenotype in one family.

external link
20.

Badovinac VP et al. (2000) Regulation of antigen-specific CD8+ T cell homeostasis by perforin and interferon-gamma.

external link
21.

Fink TM et al. (1992) Human perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10.

external link
22.

Trapani JA et al. (1990) Genomic organization of the mouse pore-forming protein (perforin) gene and localization to chromosome 10. Similarities to and differences from C9.

external link
23.

Shinkai Y et al. (1989) Molecular cloning and chromosomal assignment of a human perforin (PFP) gene.

external link
24.

Stanley K et al. (1988) Perforin. A family of killer proteins.

external link
25.

Shinkai Y et al. (1988) Homology of perforin to the ninth component of complement (C9).

external link
26.

Podack ER et al. (1988) Structure, function and expression of murine and human perforin 1 (P1).

external link
27.

Lichtenheld MG et al. (1988) Structure and function of human perforin.

external link
28.

Lek M et al. (2016) Analysis of protein-coding genetic variation in 60,706 humans.

external link
29.

Lowin B et al. (1994) A null mutation in the perforin gene impairs cytolytic T lymphocyte- and natural killer cell-mediated cytotoxicity.

external link
30.

Binder D et al. (1998) Aplastic anemia rescued by exhaustion of cytokine-secreting CD8+ T cells in persistent infection with lymphocytic choriomeningitis virus.

external link
31.

Matloubian M et al. (1999) A role for perforin in downregulating T-cell responses during chronic viral infection.

external link
32.

Stepp SE et al. (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

external link
33.

Smyth MJ et al. (2000) Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma.

external link
34.

Göransdotter Ericson K et al. (2001) Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

external link
35.

Clementi R et al. (2002) Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.

external link
36.

McCormick J et al. (2003) Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing.

external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits