New Genetic Variants in the Gene COL6A2 Associated with Ullrich Congenital Muscle Dystrophy Were Described

Employees of the genetic epidemiology laboratory together with the doctors of the consulting department at RCMG described new genetic variants in the gene COL6A2 associated with Ullrich congenital muscle dystrophy. The scientists checked the carriage of one of the revealed variants among Ossetians-Digors in the Republic of North Ossetia - Alanya.

Ullrich congenital muscle dystrophy is a hereditary disease caused by pathogenic variants in COL6A1, COL6A2, COL6A3 genes encoding chains of collagen IV, which is the main component of the basal membrane. Disruption of collagen IV synthesis leads to improper development of connective tissue, including skeletal muscle and respiratory disorders.

Employees of RCMG described three patients from two unrelated families of the Republic of North Ossetia-Alania, who had previously undescribed variants in the COL6A2 gene, one of them was met in two families: NM_001849.3 (COL6A2): c.1659_1660del. That was teamwork. Based on clinical and genetic data patients were diagnosed with Ullrich congenital muscular dystrophy.

The Republic of North Ossetia-Alanya is home to Ossetians of various sub-ethnic groups, and both families belong to the same subethnic group, the Digors. The RCMG staff suggested that the variant in the gene COL6A c.1659_1660del could be distributed among Digors and tested the carriage frequency of the variant among the phenotypically healthy Ossetians-Digors. As a result, one out of 54 healthy Digors was identified, and the calculated carriage frequency of the variant c.1659_1660del among Digors was 0.0093. The high frequency of the variant among Ossetians-Digors in the Republic of North Ossetia-Alanya suggests a possible founder effect.

Follow the link to learn more: https://www.mdpi.com/1422-0067/23/20/12127