Identification of Osteogenesis Imperfecta Type VI: A First Case Report from a Pakistani Family

Background: Osteogenesis imperfecta type VI (OI type VI) is a rare autosomal recessive disease of bone mineralization characterized by multiple bone fractures after six months of age, without a history of other extra-skeletal complications. SERPINF1 (serpin inhibitor clade F1) is the causative gene for this abnormality, having a chromosomal location 17p13. Many cases have been reported from different populations of the world. No case has been reported from the population of Pakistan related to this deformity.

Case Presentation: In the current study, we presented a case of Osteogenesis imperfecta type VI. The patient's clinical findings indicated her with short stature and progressive distortion of the skeleton, without the record of other complications like hearing problems, dental anomalies, and abnormal vision. She was 16 years old, could not walk due to deformation and weakness of lower limbs. At the time of Patient’s radiological examination, history of multiple fractures of long bones was reported. The radiological findings showed the condition of kyphoscoliotic impairment in the cervicodorsal spine. Long bones showed bowing and relatively decreased bone mineralization. Patients' sequencing data indicated a new homozygous frameshift mutation c.262_263insCCCTCTC (p. Ala91Profs*23) in SERPINF1 responsible for splice site changes in PEDF protein.

Conclusion: This identified mutation was the first report from Pakistan, and an increase in the pathogenic variants in SERPINF1 caused OI type VI.