SNP Shot: Genomic Insights

Atelosteogenesis type 1 is a genetic condition impacting bone formation throughout the body. Newborns with this disorder typically exhibit clubfeet and dislocated hips, knees, and elbows. The spine, rib cage, pelvis, and limb bones may be underdeveloped or, in some instances, completely missing. These limb bone defects lead to significantly shortened arms and legs. Distinctive facial characteristics include a large forehead, widely spaced eyes (hypertelorism), an upturned nose with a groove at the tip, and a noticeably small lower jaw and chin (micrognathia). Some affected individuals also present with a cleft palate. In males, undescended testes may be present.

A key feature of atelosteogenesis type 1 is an underdeveloped rib cage, which compromises lung development and function. Consequently, individuals with this condition are often stillborn or succumb to respiratory failure shortly after birth.

Inheritance:

Atelosteogenesis type 1 follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is needed in each cell to cause the disorder. In the vast majority of cases, the condition arises from spontaneous new mutations in the gene, occurring in individuals with no prior family history of the disorder.