SCIENTIFIC BACKGROUND

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FBN2

Category: Diseases of the Connective Tissue

Description

Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant inherited disorder that shares some symptoms such as arachnodactyly (slender, curved fingers), dolichostenomelia (disproportionately long and thin limbs), thoracic deformities, and kyphoscoliosis (abnormal curvature of the spine in two directions) with the more common Marfan syndrome. In contrast to Marfan syndrome, CCA shows no cardiovascular or ocular involvement.

To date, only pathogenic variants in the FBN2 gene, which is homologous to FBN1, have been identified as the molecular cause of CCA. Fibrillin-2, the gene product of FBN2, is preferentially expressed in elastic tissues such as the tunica media of the aorta and along the bronchi. All known FBN2 variants are located in exons 23-34, an analogous region in the FBN1 gene where the variants associated with the severe, neonatal form of Marfan syndrome are localized. Similar to FBN1, most variants in FBN2 lead to cysteine substitutions in EGF-homologous domains.

References

Lavillaureix et al. 2017, Clin Genet 92:556 / Deng et al. 2016, PLoS One 11:e0155908 / Callewaert et al. 2009, Hum Mutat 3:334 / Frederic et al. 2009, Hum Mutat 30:181 / Gupta et al. 2002, Hum Mutat19:39 / Robinson et al. 2000, J Med Genet 37:9 / Park et al. 1998, Am J Med Genet 78:350