GUCY2D基因中的一种新型缺失突变可能是导致莱伯先天性黑蒙1型疾病的原因：一例报告。
A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report.
作者信息
Salehi Chaleshtori Ahmad Reza, Garshasbi Masoud, Salehi Ali
机构信息
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Ophthalmology Center, Feiz Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
出版信息
J Curr Ophthalmol. 2019 Jul 27;31(4):458-462. doi: 10.1016/j.joco.2019.07.002. eCollection 2019 Dec.
PURPOSE
To investigate genetic mutation(s) underlying retinal degeneration in a male patient.
METHODS
A seven-year-old male patient was referred to receive genetic counseling and molecular testing. Clinical examination was performed by slit-lamp examination and electroretinography (ERG). Molecular testing was undertaken through arrayed-primer extension (APEX) and Sanger sequencing.
RESULTS
Slit-lamp examination and flat ERG were in favor of Leber congenital amaurosis (LCA) disease as well as fundus findings. The genetic screening revealed two novel homozygote deletion and duplication variants in intron 15 and exon 16 of the GUCY2D gene. Segregation analysis in the family supports the probable contribution of these two novel mutations in clinical representations of the patient.
CONCLUSIONS
This report provides more information about LCA disease and its relevant mutations in Iran. Considering the overlapping phenotypes observed in retinal degenerative disorders, comprehensive molecular testing is needed for precise diagnosis.
目的
调查一名男性患者视网膜变性的潜在基因突变。
方法
一名七岁男性患者被转诊接受遗传咨询和分子检测。通过裂隙灯检查和视网膜电图（ERG）进行临床检查。通过引物延伸分析（APEX）和桑格测序进行分子检测。
结果
裂隙灯检查和视网膜电图平坦支持莱伯先天性黑蒙（LCA）病以及眼底检查结果。基因筛查显示在GUCY2D基因的第15内含子和第16外显子中有两个新的纯合缺失和重复变异。家族中的分离分析支持这两个新突变可能对患者临床表现有贡献。
结论
本报告提供了关于伊朗LCA病及其相关突变的更多信息。考虑到视网膜退行性疾病中观察到的重叠表型，需要进行全面的分子检测以进行精确诊断。
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