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


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


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
Early-onset macula degeneration



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

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

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

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

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

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

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

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NCBI article

NCBI 2201 external link

OMIM.ORG article

Omim 612570 external link

Orphanet article

Orphanet ID 121760 external link

Wikipedia article

Wikipedia EN (Fibrillin) external link
Update: Aug. 14, 2020
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