Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Integrales Membranprotein 2B

Das ITM2B-Gen kodiert eine Membranprotein, welches als Amyloid-Vorläufer angesehen wird, weil nicht abbaubare Spaltprodukte sich bei verschiedenen neurodegenerativen Erkrankungen anreichern. Zwei autosomal dominante Erkrankungen können unterschieden werden den Britischen und den Dänischen Typ.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Zerebroarterielle Amyloidose vom Britischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Dänischen Typ
ITM2B

Referenzen:

1.

Luyendijk W et al. (1986) Hereditary cerebral hemorrhage.

external link
2.

Clough JD et al. (1980) Familial late complement component (C6, C7) deficiency with chronic meningococcemia.

external link
3.

Wattendorff AR et al. (1982) Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage.

external link
4.

Davis CA et al. (1980) Partial properdin deficiency.

external link
5.

Adams EM et al. (1983) Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis.

external link
6.

Strömgren E et al. (1970) Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome.

external link
7.

Miller ME et al. (1970) A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5).

external link
8.

Jacobs JC et al. (1972) Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement.

external link
9.

Simon C et al. (1965) [On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner].

external link
10.

Gray F et al. (1985) Leukoencephalopathy in diffuse hemorrhagic cerebral amyloid angiopathy.

external link
11.

Cosgrove GR et al. (1985) Cerebral amyloid angiopathy.

external link
12.

Gelfand EW et al. (1987) Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia.

external link
13.

Egan LJ et al. (1994) Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping.

external link
14.

Zimran A et al. (1987) Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews.

external link
15.

Mensink EJ et al. (1987) Immunodeficiency disease genes on the X chromosome.

external link
16.

Luyendijk W et al. (1988) Hereditary cerebral haemorrhage caused by cortical amyloid angiopathy.

external link
17.

Densen P et al. (1987) Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination.

external link
18.

Glover MT et al. (1988) Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency.

external link
19.

Goonewardena P et al. (1988) Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome.

external link
20.

Schifferli JA et al. (1985) Meningococcal meningitis in the first case of complement deficiency.

external link
21.

Nürnberger W et al. (1989) Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections.

external link
22.

Fijen CA et al. (1989) Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups.

external link
23.

Haan J et al. (1990) Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type.

external link
24.

Prelli F et al. (1990) Expression of a normal and variant Alzheimer's beta-protein gene in amyloid of hereditary cerebral hemorrhage, Dutch type: DNA and protein diagnostic assays.

external link
25.

Ghiso JA et al. (2001) Systemic amyloid deposits in familial British dementia.

external link
26.

Audo I et al. (2014) The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

external link
27.

Fluhrer R et al. (2012) The α-helical content of the transmembrane domain of the British dementia protein-2 (Bri2) determines its processing by signal peptide peptidase-like 2b (SPPL2b).

external link
28.

Coomaraswamy J et al. (2010) Modeling familial Danish dementia in mice supports the concept of the amyloid hypothesis of Alzheimer's disease.

external link
29.

Verbeek MM et al. (2009) Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy.

external link
30.

Herzig MC et al. (2006) Mechanism of cerebral beta-amyloid angiopathy: murine and cellular models.

external link
31.

van den Boom R et al. (2005) Microbleeds in hereditary cerebral hemorrhage with amyloidosis-Dutch type.

external link
32.

Herzig MC et al. (2004) Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis.

external link
33.

Attems J et al. (2004) Amyloid beta peptide 1-42 highly correlates with capillary cerebral amyloid angiopathy and Alzheimer disease pathology.

external link
34.

Revesz T et al. (2003) Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view.

external link
35.

Rostagno A et al. (2002) Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease.

external link
36.

Natté R et al. (2001) Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles.

external link
37.

Grabowski TJ et al. (2001) Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy.

external link
38.

Iglesias S et al. (2000) Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia.

external link
39.

Vidal R et al. (2000) A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred.

external link
40.

O'Donnell HC et al. (2000) Apolipoprotein E genotype and the risk of recurrent lobar intracerebral hemorrhage.

external link
41.

Vidal R et al. (1999) A stop-codon mutation in the BRI gene associated with familial British dementia.

external link
42.

Fukumori Y et al. (1998) Terminal complement component deficiencies in Japan.

external link
43.

Greenberg SM et al. (1998) Association of apolipoprotein E epsilon2 and vasculopathy in cerebral amyloid angiopathy.

external link
44.

Nicoll JA et al. (1997) High frequency of apolipoprotein E epsilon 2 allele in hemorrhage due to cerebral amyloid angiopathy.

external link
45.

Yamada M et al. (1996) Lack of an association between apolipoprotein E epsilon 4 and cerebral amyloid angiopathy in elderly Japanese.

external link
46.

Nicoll JA et al. (1996) High frequency of apolipoprotein E epsilon 2 in patients with cerebral hemorrhage due to cerebral amyloid angiopathy.

external link
47.

Kölble K et al. (1993) Carrier detection in families with properdin deficiency by microsatellite haplotyping.

external link
48.

Greenberg SM et al. (1995) Apolipoprotein E epsilon 4 and cerebral hemorrhage associated with amyloid angiopathy.

external link
49.

Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

external link
50.

Tersmette-Steenstra HM et al. (1986) [A family with meningococcal infections].

external link
51.

Sjöholm AG et al. (1988) Dysfunctional properdin in a Dutch family with meningococcal disease.

external link
52.

Sjöholm AG et al. (1988) A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males.

external link
53.

Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.

external link
54.

Coleman MP et al. (1991) Genetic and physical mapping around the properdin P gene.

external link
55.

Derry JM et al. (1992) Physical linkage of the A-raf-1, properdin, synapsin I, and TIMP genes on the human and mouse X chromosomes.

external link
56.

Wadelius C et al. (1992) Linkage analysis in properdin deficiency families: refined location in proximal Xp.

external link
57.

Nolan KF et al. (1992) Characterization of the human properdin gene.

external link
58.

Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

external link
59.

Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects.

external link
60.

Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency.

external link
61.

Van Broeckhoven C et al. (1990) Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch).

external link
62.

Lachmann PJ et al. (1978) Combined genetic deficiency of C6 and C7 in man.

external link
63.

Ross SC et al. (1984) Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency.

external link
64.

Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

external link
65.

Wang X et al. (1995) Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.

external link
66.

Wetsel RA et al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon.

external link
67.

Bugiani O et al. (2010) Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

external link
68.

Revesz T et al. (2009) Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies.

external link
69.

Rovelet-Lecrux A et al. (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

external link
70.

Obici L et al. (2005) A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.

external link
71.

Greenberg SM et al. (2003) Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation.

external link
72.

Levy E et al. (1990) Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

external link
73.

Ash S et al. (1994) Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity.

external link
74.

Asghar SS et al. (1991) Hereditary deficiency of C5 in association with discoid lupus erythematosus.

external link
75.

Fernandez-Madrid I et al. (1991) Codon 618 variant of Alzheimer amyloid gene associated with inherited cerebral hemorrhage.

external link
76.

Shield JP et al. (1992) Lethal congenital erythroderma: a newly recognised genetic disorder.

external link
77.

Friduss SR et al. (1992) Fatal pyoderma gangrenosum in association with C7 deficiency.

external link
78.

Sanal O et al. (1992) Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.

external link
79.

None (1975) Congophilic angiopathy complicated by surgery and massive hemorrhage. A light and electron microscopic study.

external link
80.

Boyer JT et al. (1975) Hereditary deficiency of the seventh component of complement.

external link
81.

Rosenfeld SI et al. (1976) Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum.

external link
82.

Snyderman R et al. (1979) Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred.

external link
83.

Delâge JM et al. (1977) Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

external link
84.

Rittner C et al. (1976) Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man.

external link
85.

Petersen BH et al. (1979) Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency.

external link
86.

Lee TJ et al. (1978) Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria.

external link
87.

None (1998) Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment.

external link
88.

Graffagnino C et al. (1994) A molecular genetic study of intracerebral hemorrhage.

external link
89.

Roosen N et al. (1985) Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report.

external link
90.

Smith DB et al. (1985) Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report.

external link
91.

van Duinen SG et al. (1987) Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease.

external link
92.

van den Bogaard R et al. (2000) Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

external link
93.

Fredrikson GN et al. (1996) Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

external link
94.

Westberg J et al. (1995) Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.

external link
95.

Schlesinger M et al. (1993) Hereditary properdin deficiency in three families of Tunisian Jews.

external link
96.

Sjöholm AG et al. (1982) Properdin deficiency in a family with fulminant meningococcal infections.

external link
97.

NCBI article

NCBI 9445 external link
98.

OMIM.ORG article

Omim 603904 external link
99.

Orphanet article

Orphanet ID 122711 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz