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Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family A case report 期刊论文

编号：

d906dcb4-2530-44b8-84a9-9de044b478f6
作者：

Feng, Lei^[1] Zhou, Daizhan^[2,3] Zhang, Zhou^[3] He, Lin^[3] Liu, Yun^[4,5] Yang, Yabo^[1]
语种：

English
期刊：

MEDICINE ISSN：0025-7974 2017 年 96 卷 24 期 ; JUN
收录：
关键词：

anisometropia exome sequencing UNC5D
摘要：

Introduction: Severe myopic anisometropia has been identified to have heritability, but the pathogenesis of anisometropia still remains obscure. Case description: Here, we presented a Chinese severe myopic anisometropia family with 5 members affected. Though using the exome sequencing, we identified a novel mutation in the UNC5D gene (c. 1297C > T, p.R433C), which was predicted to have a damage effect on the protein function and kept highly conserved throughout evolution across species. As previously described, the UNC5D gene belongs to the UNC5 protein family and may have functions to regulate neuronal migration, axon guidance, and cell survival. The expression of UNC5D was also co-located at the visual areas of the mouse cortical regions at early postnatal ages. Conclusion: Our data provide the first evidence for involvement of UNC5D gene in the severe myopic anisometropia.
推荐引用方式
GB/T 7714：

Feng Lei,Zhou Daizhan,Zhang Zhou, et al. Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family A case report [J].MEDICINE,2017,96(24).
APA：

Feng Lei,Zhou Daizhan,Zhang Zhou,He Lin,&Yang Yabo.(2017).Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family A case report .MEDICINE,96(24).
MLA：

Feng Lei, et al. "Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family A case report" .MEDICINE 96,24(2017).

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