SCIENTIFIC BACKGROUND

ADAMTS2

Scientific Background

The very rare, autosomal recessively inherited dermatosparaxis EDS (dEDS) is characterized by extremely fragile, loose skin that appears excessive, especially on the face, and resembles cutis laxa. Other symptoms include easy bruising, premature rupture of fetal membranes, fragile internal organs, large umbilical and inguinal hernias, as well as short stature and short fingers.

The molecular cause is a procollagen I-N proteinase deficiency that leads to the incorporation of immature pNa1(I) and pNa2(I) pro-collagen chains into collagen fibrils during maturation of the pro-α1 (I) and pro-α2 (I) collagen chains. As a result, the assembly of the collagen fibrils is disturbed so that pathogenic hieroglyphic-like structures are visible in a cross-section of the dermis under electron microscopy.

The ADAMTS2 gene codes for the procollagen I-N proteinase, a zinc metalloproteinase of the ADAMTS family, which separates the aminopropeptides of type I, type II and type III procollagens. ADAMTS (A Disintegrin-like And Metalloproteinase with ThromboSpondin motifs type 1) are extracellular matrix anchor proteins. To date, 11 different inactivating ADAMTS2 variants have been described that lead to premature translational arrest or involve genomic rearrangements. The variants are mostly homozygous and more rarely combined heterozygous.

 

References

Brady et al. 2017, Am J Med Genet C 175:70 / Van Damme et al. 2016, Genet Med 18: / Colige et al. 2004, J Invest Dermatol 123:656 / Malfait et al. 2004, Am J Med Genet 131A:18

GENES

ADAMTS2
How to order

LATEST ARTICLES

Duchenne muscular dystrophy, a rare inherited muscle disorder characterized by progressive muscle weakness and degeneration that leads to difficultie...

Read more

May 12 is International Nurses Day. It is celebrated on Florence Nightingale’s birthday. She pioneered the field of modern nursing through her dedi...

Read more

Hair loss is a common problem that affects millions of men and women around the world. While genetics is believed to be the most significant factor c...

Read more

Depression is a serious mental health issue affecting over 280 million people worldwide. Recent research has revealed a potential link between gut he...

Read more

If you are unlucky enough to suffer from migraines, you will know that a migraine is not just a bad headache. The headache and accompanying symptoms ...

Read more

Autism spectrum disorder (ASD) is a neurological developmental disorder that affects brain development and function. This affects how people learn, b...

Read more

Researchers have developed a method called "Mendelian Phenotype Search Engine" (MPSE) to identify which sick infants in the neonatal intensive care u...

Read more

Did you know that wisdom teeth are actually an evolutionary leftover from our ancient ancestors that no longer serve their original purpose? These mo...

Read more

Azoospermia is a medical condition characterized by the absence of sperm in the ejaculate and is a major cause of male infertility. It affects 1 in 1...

Read more

Science has traditionally been a male dominated subject; however, women have also been hard at work in this field for decades. We put together this i...

Read more