先天性前葡萄肿中CYP1B1基因的突变
Mutations of the CYP1B1 gene in congenital anterior staphylomas.
作者信息
Al Judaibi Ramzi, Abu-Amero Khaled K, Morales Jose, Al Shahwan Sami, Edward Deepak P
机构信息
King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia ; Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL, USA.
出版信息
Clin Ophthalmol. 2014 Feb 24;8:445-8. doi: 10.2147/OPTH.S53200. eCollection 2014.
PURPOSE
Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene.
METHODS
We reviewed the medical records, including the genetic analysis.
RESULTS
Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)].
CONCLUSION
CYP1B1 gene mutation may be associated with congenital anterior staphylomas.
目的
在此，我们报告两名患有先天性前葡萄肿且CYP1B1基因发生突变的患者。
方法
我们回顾了包括基因分析在内的病历资料。
结果
两名无血缘关系的患者均患有先天性前葡萄肿。两名患者的CYP1B1基因均发生了突变。第一名患者为近亲结婚所生，表现为纯合错义突变g.3987G>A（p.G61E）。第二名患者具有复合杂合错义突变[g.4160 G>T（p.A119S）和g.8131 C>G（p.L432V）]。
结论
CYP1B1基因突变可能与先天性前葡萄肿有关。
Zotero 插件