Genomic coordinate (human 12:47,972,967 COL2A1).
Cytoband (human 12q13.11 COL2A1).
Location = 73.1% Cytoband
Here I 🎁 present: ,”Achondrogenesis-Hypochondrogenesis Type-2″, Victor McKusick, Mendelian Inheritance in Man’, 1966.
Achondrogenesis-Hypochondrogenesis Type-2
Achondrogenesis-Hypochondrogenesis Type-2 is a severe spectrum of skeletal dysplasias caused by mutations in the COL2A1 gene. It is characterized by extreme bone shortening, underdeveloped lungs, and is typically lethal before or shortly after birth due to respiratory failure.
Overview.
This condition forms a continuous disease spectrum with varying severity. Achondrogenesis Type-2 is the most severe and lethal form, while Hypochondrogenesis is considered a milder variant.
Genetic Cause.
The disorder is caused by variants in the COL2A1 gene, which provides instructions for making type II collagen. This type of collagen is critical for building cartilage and developing the skeleton.
Mutation: These variants disrupt the formation and assembly of type II collagen.
Inheritance: It is inherited as an autosomal dominant trait. However, most cases occur as new (de novo) mutations in individuals with no family history of the disorder.
