SCIENTIFIC BACKGROUND

COL2A1

Hypochondrogenesis is an autosomal-dominantly inherited condition that usually occurs sporadically (less frequently in families). In most cases, mutations in the COL2A1 gene, which lead to a lack of type II collagen, can be identified as the cause.

 

Newborns with hypochondrogenesis are usually characterized by a short upper body and short extremities. The head is often disproportionately large and oval, the facial contour is flat with widely spaced eyes. Clinical differentiation from achondrogenesis is difficult, as they are probably just different degrees of severity of the same syndrome. Together with achondrogenesis, spondyloepiphyseal dysplasia, Kniest syndrome and Stickler syndrome, these connective tissue diseases are also summarized under the term collagen type II diseases. Collagen type II is an important component of bone, cartilage and connective tissue; disorders in the synthesis or incorporation of collagen II usually lead to skeletal dysplasia.

 

The common molecular cause of these diseases is variants in the COL2A1 gene. Although it is currently still difficult to make a clear genotype-phenotype assignment, glycine substitutions in the triple helix domain are the main cause of hypochondrogenesis.

GENES

COL2A1
How to order

LATEST ARTICLES

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

February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for th...

Read more

Introduction Cardiovascular disease (CVD) is a major health issue as it remains a leading cause of death worldwide [1]. CVD is responsible for mor...

Read more

Antimicrobial resistance (AMR) is one of the most pressing global health threats, and accurate identification and surveillance of multidrug-resistant...

Read more