Seyedhassani Seyed Mohammad, Hashemi-Gorji Feyzollah, Yavari Mahdieh, Harazi Fahimeh, Yassaee Vahid Reza
a Genomic Research Center, Shahid Beheshti University of Medical Sciences , Tehran , Iran.
b Dr. Seyedhassani Medical Genetic Center , Yazd , Iran.
Fetal Pediatr Pathol. 2016;35(5):353-358. doi: 10.1080/15513815.2016.1191567. Epub 2016 Jun 30.
Osteogenesis imperfecta (OI) is a set of clinically and genetically heterogeneous disorders with autosomal dominant, recessive and X-linked inheritance patterns. The aim of this study was to describe a novel genetic abnormality in a case of OI type XI with mild joint contractures, kyphoscoliosis, muscular atrophy, progressively deforming and multiple bone fractures in a consanguineous Iranian family. Based on the phenotype, investigation of two candidate genes, CRTAP (OI type VII) and FKBP10 (OI type XI) detected a novel homozygous frameshift mutation in the FKBP10 gene. This finding can be useful in accurate genetic counseling and prioritization of molecular analysis of OI in Iranian patients.
成骨不全症（OI）是一组临床和遗传异质性疾病，具有常染色体显性、隐性和X连锁遗传模式。本研究的目的是描述一个患有XI型OI的病例中的一种新的基因异常，该病例来自一个伊朗近亲家庭，有轻度关节挛缩、脊柱后凸侧弯、肌肉萎缩、进行性变形和多发性骨折。基于该表型，对两个候选基因CRTAP（VII型OI）和FKBP10（XI型OI）进行研究，在FKBP10基因中检测到一个新的纯合移码突变。这一发现有助于对伊朗患者进行准确的遗传咨询以及优先进行OI的分子分析。
