Amirfiroozy Akbar, Hamidieh Amir A, Golchehre Zahra, Rezamand Azim, Yahyaei Mahin, Beiranvandi Fatemeh, Amirfiroozy Soheyla, Keramatipour Mohammad
Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Hematology-Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Avicenna J Med Biotechnol. 2017 Oct-Dec;9(4):205-208.
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.
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.
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.
In this paper, a girl affected by osteopetrosis with a novel deletion in gene was reported.
骨质石化症是一组基因异质性疾病，其主要特征是由于破骨细胞异常导致骨密度增加。根据遗传模式、严重程度和发病年龄，它有三种临床形式：显性良性型（ADO）、中间型（IRO）和隐性重型（ARO）。最近发现的导致ARO型的基因之一是 ，该类型患者中有4%受此基因影响。
本文对一名患有骨质石化症的15岁女孩进行了分析，以检测已知骨质石化症基因中的致病突变。为实现这一目的，对基因的扩增外显子进行测序，然后进行分析。
基因的直接测序显示患者存在纯合的c.43delG变异。父母双方健康，均为该变异的杂合子。计算机分析表明，这种新变异可被视为患者疾病的病因。
本文报道了一名患有骨质石化症的女孩，其 基因存在新的缺失。
