TY - JOUR AU - Selvam, Pavalan; Singh, Shekhar; Jain, Angita; Atwal, Herjot; Atwal, Paldeep S. TI - Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature SN - 2146-4596 SN - 2146-460X PY - 2020 JO - J Pediatr Genet JF - Journal of Pediatric Genetics LA - EN VL - 09 IS - 02 SP - 117 EP - 120 ET - 2019/10/16 DA - 2020/04/25 KW - otospondylomegaepiphyseal dysplasia KW - autosomal recessive KW - COL11A2 AB - Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. Here, we describe a 2-year-old girl presenting from birth with a phenotype suggestive of OSMED. On whole exome sequence analysis of the family via commercially available methods, we detected two novel heterozygous pathogenic variants in the proband. In addition, we reviewed the phenotype of autosomal recessive OSMED cases with COL11A2 pathogenic variants reported to date and quantitatively highlighted the phenotypic spectrum. PB - Georg Thieme Verlag KG DO - 10.1055/s-0039-1698446 UR - http://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0039-1698446 ER -