Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5.
Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5.
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DOI：
10.1002/ajmg.a.40383
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发表时间：
2019-01
期刊：
影响因子：
--
通讯作者：
Retrouvey JM
中科院分区：
文献类型：
--
作者：
Dagdeviren D;Tamimi F;Lee B;Sutton R;Rauch F;Retrouvey JM
严重的成骨不全（OI）通常是由编码I型胶原的基因突变引起的，并且经常与颅面异常有关。然而，由IFITM5基因中的p.Ser40Leu突变引起的OI的牙齿和颅面特征尚未报道。我们调查了一个15岁的女孩与严重的OI引起的这种突变。她的四肢长骨有明显的变形。没有临床或放射学的迹象，牙本质发育不全，但一颗牙齿失踪，几颗牙齿受到影响。锥形束计算机断层扫描显示颅面骨骼的普遍骨质减少外观，双侧下颌骨体和皮质侵蚀区增大。颅底和颅骨显示出广泛的颗粒状骨模式，伴有骨质增生和骨质溶解的混合。蝶窦和额窦先天性缺失。头影测量分析显示III类生长模式。在这种情况下，IFITM5 p.Ser40Leu突变并不影响牙齿结构，但与颅面骨的畸形有关，这些畸形与骨骼其他部分的畸形相似。
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.
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影响因子：
2.6
作者：
Chang, Pei-Ching;Lin, Shiao-Yu;Hsu, Kuang-Hung
通讯作者：
Hsu, Kuang-Hung
影响因子：
3.7
作者：
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影响因子：
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影响因子：
6.2
作者：
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通讯作者：
Bishop, NJ
影响因子：
6.2
作者：
Moffatt, Pierre;Gaumond, Marie-Helene;Thomas, Gethin
通讯作者：
Thomas, Gethin