Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1.
10.3346/jkms.2013.28.7.1107
- Author:
Sung Yoon CHO
1
;
Chang Seok KI
;
Young Bae SOHN
;
Su Jin KIM
;
Se Hyun MAENG
;
Dong Kyu JIN
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. jindk@skku.edu
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
Osteogenesis Imperfecta;
Osteogenesis Imperfect Type VI;
SERPINF1;
Pigment Epithelium-derived Factor
- MeSH:
Bone Density/genetics;
Child;
Collagen Type I/genetics;
Eye Proteins/*genetics;
Female;
Fractures, Bone/genetics;
Humans;
Nerve Growth Factors/*genetics;
Osteogenesis Imperfecta/diagnosis/*genetics;
Serpins/*genetics
- From:Journal of Korean Medical Science
2013;28(7):1107-1110
- CountryRepublic of Korea
- Language:English
-
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.
