A Novel Mutation in Gene Causes Malignant Infantile Osteopetrosis.

Avicenna J Med Biotechnol 2017 Oct-Dec;9(4):205-208

Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Background: Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). One of the recently discovered genes for ARO form is that accounts for 4% of affected persons by this type.

Methods: In this paper, a 15 years old girl affected by osteopetrosis has been analyzed for detecting causal mutation in known osteopetrosis genes. To get it done, amplified exons of the genes were sequenced and then were analyzed.

Results: Direct sequencing of gene showed a homozygous c.43delG variant in the patient. Both healthy parents were heterozygous for this variant. In silico analysis revealed that this novel variant can be considered as the cause of disease in the patient.

Conclusion: In this paper, a girl affected by osteopetrosis with a novel deletion in gene was reported.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650739PMC
November 2017

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