Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fibrillin-2

The FBN2 gene encodes a component of connective tissue microfibrils. Mutations cause autosomal dominant congenital contractural arachnodactyly and early-onset macula degeneration.

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

Related Diseases:

Congenital contractural arachnodactyly
FBN2
Early-onset macula degeneration
FBN2

References:

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.

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

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4.

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

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5.

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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6.

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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7.

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

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8.

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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9.

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

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10.

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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11.

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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12.

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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13.

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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14.

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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15.

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

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16.

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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17.

NCBI article

NCBI 2201 [^]
18.

OMIM.ORG article

Omim 612570 [^]
19.

Orphanet article

Orphanet ID 121760 [^]
20.

Wikipedia article

Wikipedia EN (Fibrillin) [^]
Update: April 29, 2019