Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.

Introduction: Mutations in collagen type IV-associated genes lead to Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). gene mutations have rarely been reported in patients with UCMD- and BM-like disorders not involving mutations. UCMD-2 results from homozygous mutations in the gene on the long arm of chromosome 6. Pathogenic variants in result in a rare congenital connective tissue/myopathy overlap syndrome under the heading of myopathic Ehlers-Danlos syndrome. 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 gene.

Discussion/conclusion: This report is presented in order to raise awareness of rare mutations in the gene that affect muscle and connective tissue and to add to the literature in defining the phenotypic spectrum.