先天性特发性眼球震颤的致病基因和基因位点

doi:10.3760/cma.j.cn115909-20191028-00291

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Abstract Congenital idiopathic nystagmus (CIN) is characterized as involuntary, rhythmic ocular oscillations without any obvious disorders in the eyes and in the visual pathway. It usually presents in the early period after birth. It is estimated that the prevalence of CIN is approaching 0.015% to 0.14%. Patients with CIN may have reduced visual acuity and compensatory head position. The etiology and the underlying pathogenesis of CIN are still unknown, but there is a tendency for family inheritance, which can be inherited as autosomal dominant, autosomal recessive, or X-linked inheritance trait. Seven pathogenic gene loci have been reported, including four loci on different autosomal chromosomes and three on the X chromosome. However, only the FERM domain containing the protein 7 (FRMD7) gene on the X chromosome has been identified to be associated with the onset of CIN. In this paper, we describe the inheritance patterns of CIN, its related clinical features, as well as relevant pathogenic gene loci and genes. We will further elaborate on the underlying molecular pathogenesis of nystagmus caused by the FRMD7 gene mutations.

Key words： nystagmus gene FERM domain containing the protein 7 G protein-coupled receptor 143 heredity

Received: 28 October 2019

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Fund: National Natural Science Foundation of China (81670883)

Corresponding Authors: Ningdong Li, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China (Email: lnd30@163.com)

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https://www.cjoovs.com/EN/10.3760/cma.j.cn115909-20191028-00291 OR https://www.cjoovs.com/EN/Y2021/V23/I1/69

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