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首页> 外文期刊>American journal of medical genetics, Part A >Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5
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Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5

机译：IFITM5中P.Ser40Leuue突变引起的牙科和颅面特征

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摘要

Severe forms of osteogenesis imperfecta (OI) are usually caused by mutations in genes that code for collagen Type I and frequently are associated with craniofacial abnormalities. However, the dental and craniofacial characteristics of OI caused by the p.Ser40Leu mutation in the IFITM5 gene have not been reported. We investigated a 15-year-old girl with severe OI caused by this mutation. She had marked deformations of extremity long bones. There were no clinical or radiological signs of dentinogenesis imperfecta, but one tooth was missing and several teeth were impacted. Cone beam computed tomography revealed a generalized osteopenic appearance of the craniofacial skeleton, bilateral enlargement of mandibular bodies, and areas of cortical erosions. The cranial base and skull showed a generalized granular bone pattern with a mixture of osteosclerosis and osteolysis. Sphenoid and frontal sinuses were congenitally missing. Cephalometric analysis indicated a Class III growth pattern. In this case, the IFITM5 p.Ser40Leu mutation did not affect tooth structure but was associated with deformities in craniofacial bones that resemble those in the other parts of the skeleton.
机译：严重形式的骨质骨质渗透（OI）通常由基因中的突变引起的，即胶原蛋白I型和经常与颅面异常相关。然而，尚未报告由IFITM5基因中的P.Ser40Leuue突变引起的OI引起的牙科和颅面特征。我们调查了一个15岁的女孩，由这种突变引起的严重OI。她的极端长骨骼的变形显着。没有牙本生发生的临床或放射性迹象，但一颗牙齿缺失，有几颗牙齿受到影响。锥梁计算断层扫描揭示了颅面骨架的广义骨折外观，下颌体的双侧扩大以及皮质糜烂区域。颅底和颅骨显示出具有骨静脉和骨溶解的混合物的广义颗粒状骨图案。蝶形和额窦似乎缺失。头部测量分析表明III类生长模式。在这种情况下，IFITM5 P.SER40LEUU突变不会影响牙齿结构，但与类似于骨架的其他部分中的颅面骨中的畸形相关。

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