Abstract
INTRODUCTION: Mutations in collagen type IV-associated genes lead to Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). COL12A1 gene mutations have rarely been reported in patients with UCMD- and BM-like disorders not involving COL6 mutations. UCMD-2 results from homozygous mutations in the COL12A1 gene on the long arm of chromosome 6. Pathogenic variants in COL12A1 result in a rare congenital connective tissue/myopathy overlap syndrome under the heading of myopathic Ehlers-Danlos syndrome. COL12A1 dominant pathogenic variants have been rarely reported, and the phenotypic spectrum has not yet been identified. CASE PRESENTATION: We describe a female patient aged 2 years and 10 months exhibiting a milder phenotype who presented due to pronounced joint hyperlaxity, frequent falls, and skin lesions. Genetic analysis revealed a homozygous c.8903C>T (p.Pro2968Leu) missense variant that had previously been described but concerning which there had been no clinical report, in the COL12A1 gene. DISCUSSION/CONCLUSION: This report is presented in order to raise awareness of rare mutations in the COL12A1 gene that affect muscle and connective tissue and to add to the literature in defining the phenotypic spectrum.