J Korean Med Sci.  2013 Jul;28(7):1107-1110. 10.3346/jkms.2013.28.7.1107.

Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1

• Cho SY
• Ki CS
• Sohn YB
• Kim SJ
• Maeng SH
• Jin DK

• KMID: 1777512
• DOI: http://doi.org/10.3346/jkms.2013.28.7.1107

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.

Keyword

Osteogenesis Imperfecta; Osteogenesis Imperfect Type VI; SERPINF1; Pigment Epithelium-derived Factor

MeSH Terms

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
Collagen Type I
Eye Proteins
Nerve Growth Factors
Serpins

Figure

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  Fig. 1 (A) Right femur radiogram taken at the age of 18 months shows a fracture of the proximal metadiaphysis in the right femur. (B) Thorax of the patient at the age of 8 yr shows a somewhat decreased lung volume, generalized vertebral plana with diffuse osteopenia, and progressed thoracic scoliosis. (C) Radiographs of the right and left leg when the patient was 8 yr old show bilateral coxa vara, fractures treated using intramedullary fixation, and "popcorn epiphyses."

• 

  Fig. 2 SERPINF1 mutations demonstrated by Sanger sequencing. The patient had compound heterozygous mutations (c.77dupC and c.421dupC; arrows) of SERPINF1. Her father and mother were confirmed to be heterozygous carriers.

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