Osteogenesis Imperfecta-Serine Replacing Glycine in the COL1A1 Gene-A New Establishment in Genetics

Author(s): Usman Tauseef, Mohsina Ibrahim, Muhammad Sohaib Asghar, Abubakar Tauseef, Maryam Zafar, Uzma Rasheed, Gul Muhammad Memon, Mohammed Akram

Osteogenesis Imperfecta (OI) is a genetic disorder of bone fragility. In most cases, genetic testing is not usually done either due to a lack of availability or unaffordability. In our study, we looked for a rare gene variant in a patient with Osteogenesis Imperfecta type 1. Our patient who was a 6-month-old baby boy presented to us with multiple bone fractures, blue sclera, umbilical hernia with the absence of dentinogenesis Imperfecta, and hypercalcemia. A gene sequencing came out to be COL1A1 positive having a nucleotide change of glycine acid mutation replaced by serine, which was a unique feature in a patient of OI, and as Glycine was critical for COL1A1 gene, its replacement leads to the patient presented as a homozygous case of OI. OI is usually diagnosed on a history of recurrent spontaneous fractures and characteristic features like blue sclera, short stature, and deformities of long bones or spine.

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