title: Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.
abstract: Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been reported. Recently, SERPINF1 has been reported as another causative gene in OI type VI. To date, only eight SERPINF1 mutations have been reported and all are homozygous. Our patient showed no abnormalities at birth, frequent fractures, osteopenia, and poor response on pamidronate therapy. At the time of her most recent evaluation, she was 8 yr old, and could not walk independently due to frequent lower-extremity fractures, resulting in severe deformity. No clinical signs were seen of hearing impairment, blue sclera, or dentinogenesis imperfecta. In this study, we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c.77dupC and c.421dupC) of SERPINF1.
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Sung Yoon
authors.initials: SY
authors.lastname: Cho
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Kim
authors.forename: Se Hyun
authors.initials: SH
authors.lastname: Maeng
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D015519:Bone Density / Q000235:genetics; D002648:Child; D024042:Collagen Type I / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D050723:Fractures, Bone / Q000235:genetics; D006801:Humans; D009414:Nerve Growth Factors / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics*; D015843:Serpins / Q000235:genetics*; D000099174:Pigment Epithelium-Derived Factor
chemical_list: D024042:Collagen Type I; D005136:Eye Proteins; D009414:Nerve Growth Factors; D015843:Serpins; D000099174:Pigment Epithelium-Derived Factor
keywords: Osteogenesis Imperfect Type VI; Osteogenesis Imperfecta; Pigment Epithelium-derived Factor; SERPINF1