SCIENTIFIC BACKGROUND

FBN2

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

GENES

FBN2
How to order

LATEST ARTICLES

Cystic fibrosis (CF) is a life-threatening, progressive, inherited condition that causes severe damage to the body, primarily affecting the organs of...

Read more

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects physical growth, facial features, and cogni...

Read more

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. D...

Read more

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various area...

Read more