COL12A1 gene mutation is associated with habitual patellar dislocation: a case report and literature review

Abstract

Variants within COL12A1 have been associated with the occurrence and progression of a number of musculoskeletal disorders. Here, we report a case of patellar dislocation and limited mobility in a 13-year-old patient and genetic determination of the etiology of their condition utilizing diagnostic whole-exome sequencing. The patient underwent diagnostic whole-exome sequencing to look for pathogenic variants, which were classified using the ACMG classification standards. A heterozygous nucleotide variant (NM_004370.6: c.8179-2A > G) in intron 53 of the COL12A1 gene was identified and resulted in a splicing abnormality deemed pathogenic. In conclusion, the heterozygous nucleotide variant in intron 53 of COL12A1 has been associated with patellar dislocation and limited mobility of the knee.