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Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus
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Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus
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Journal Article
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus
2021
Overview
Purpose:
Congenital nystagmus (CN) is a genetically and clinically heterogeneous ocular disorder that manifests as involuntary, periodic oscillations of the eyes. To date, only
FRMD7
and
GPR143
have been reported to be responsible for causing CN. Here, we aimed to identify the disease-causing mutations and describe the clinical features in the affected members in our study.
Methods:
All the subjects underwent a detailed ophthalmic examination. Direct sequencing of all coding exons and splice site regions in
FRMD7
and
GPR143
and a mutation assessment were performed in each patient.
Results:
We found 14 mutations in 14/37 (37.8%) probands, including nine mutations in the
FRMD7
gene and five mutations in the
GPR143
gene, seven of which are novel, including c.284G>A(R95K), c.964C>T(P322S), c.284+10T>G, c.901T>C (Y301H), and c.2014_2023delTCACCCATGG(S672Pfs
*
12) in
FRMD7
, and c.250+1G>C, and c.485G>A (W162
*
) in
GPR143
. The mutation detection rate was 87.5% (7/8) of familial vs. 24.1% (7/29) of sporadic cases. Ten mutations in 24 (41.7%) non-syndromic subjects and 4 mutations in 13(30.8%) syndromic subjects were detected. A total of 77.8% (7/9) of mutations in
FRMD7
were concentrated within the FERM and FA domains, while all mutations in
GPR143
were located in exons 1, 2, 4 and 6. We observed that visual acuity tended to be worse in the
GPR143
group than in the
FRMD7
group, and no obvious difference in other clinical manifestations was found through comparisons in different groups of patients.
Conclusions:
This study identified 14 mutations (seven novel and seven known) in eight familial and 29 sporadic patients with congenital nystagmus, expanding the mutational spectrum and validating
FRMD7
and
GPR143
as mutation hotspots. These findings also revealed a significant difference in the screening rate between different groups of participants, providing new insights for the strategy of genetic screening and early clinical diagnosis of CN.
Publisher
Frontiers Media S.A
Subject
