Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibrillin-2

Das FBN2-Gen kodiert eine Komponente der Mikrofibrillen des Bindegewebes. Mutationen verursachen autosomal dominante Erkrankungen wie die kongenitale Kontraktur-Arachnodaktylie und die früheinsetzende Makuladegeneration.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Kongenitale Kontraktur-Arachnodaktylie
FBN2
Früheinsetzende Makuladegeneration
FBN2

Referenzen:

1.

Lee B et. al. (1991) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

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2.

Putnam EA et. al. (1995) Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

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3.

Wang M et. al. (1995) Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

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4.

Zhang H et. al. (1995) Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.

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5.

Zhang H et. al. (1994) Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices.

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6.

Li X et. al. (1993) Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18.

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7.

Wang M et. al. (1996) Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

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8.

Putnam EA et. al. (1997) Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

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9.

Maslen C et. al. (1997) A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

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10.

Babcock D et. al. (1998) A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

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11.

Trask TM et. al. (1999) N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly.

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12.

Belleh S et. al. (2000) Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

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13.

Lin G et. al. (2002) Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils.

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14.

Quondamatteo F et. al. (2002) Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development.

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15.

Sampson MG et. al. (2010) Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

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16.

Ratnapriya R et. al. (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

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