Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease
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Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease. / Gao, Feng-Juan; Wang, Dan-Dan; Chen, Fang; Sun, Hao-Xiang; Hu, Fang-Yuan; Xu, Ping; Li, Jiankang; Liu, Wei; Qi, Yu-He; Li, Wei; Wang, Ming; Zhang, Shenghai; Xu, Ge-Zhi; Chang, Qing; Wu, Ji-Hong.
I: British Journal of Ophthalmology, Bind 105, Nr. 1, 2021, s. 87-92.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease
AU - Gao, Feng-Juan
AU - Wang, Dan-Dan
AU - Chen, Fang
AU - Sun, Hao-Xiang
AU - Hu, Fang-Yuan
AU - Xu, Ping
AU - Li, Jiankang
AU - Liu, Wei
AU - Qi, Yu-He
AU - Li, Wei
AU - Wang, Ming
AU - Zhang, Shenghai
AU - Xu, Ge-Zhi
AU - Chang, Qing
AU - Wu, Ji-Hong
PY - 2021
Y1 - 2021
N2 - Aims To investigate the frequency of USH2A mutation and the clinical and genetic differences between Usher syndrome type II (USH2) and retinitis pigmentosa (RP) in a large cohort of Chinese patients. Methods A total of 1381 patients with inherited retinal disease (IRD) were recruited. The phenotypic and genotypic information of patients with USH2A mutations was evaluated. Results The prevalence of patients with USH2A mutations was 15.75%, which was the most frequently detected gene in this cohort of patients. Hotspot of USH2A mutations was c.8559-2A >G and c.2802T >G. Patients with USH2 had an earlier and more serious decline of visual function and damage to retina structure than did patients with RP in the first 10 years (p0.05). Missense variants had less severe consequences and were found more commonly in RP, whereas more deleterious genotypes were associated with an earlier onset of disease and were found more commonly in USH2. Conclusions This study provides detailed clinical-genetic assessment of patients with USH2A mutations of Chinese origin, enabling precise genetic diagnoses, better management of these patients and putative therapeutic approaches.
AB - Aims To investigate the frequency of USH2A mutation and the clinical and genetic differences between Usher syndrome type II (USH2) and retinitis pigmentosa (RP) in a large cohort of Chinese patients. Methods A total of 1381 patients with inherited retinal disease (IRD) were recruited. The phenotypic and genotypic information of patients with USH2A mutations was evaluated. Results The prevalence of patients with USH2A mutations was 15.75%, which was the most frequently detected gene in this cohort of patients. Hotspot of USH2A mutations was c.8559-2A >G and c.2802T >G. Patients with USH2 had an earlier and more serious decline of visual function and damage to retina structure than did patients with RP in the first 10 years (p0.05). Missense variants had less severe consequences and were found more commonly in RP, whereas more deleterious genotypes were associated with an earlier onset of disease and were found more commonly in USH2. Conclusions This study provides detailed clinical-genetic assessment of patients with USH2A mutations of Chinese origin, enabling precise genetic diagnoses, better management of these patients and putative therapeutic approaches.
KW - retina
KW - genetics
KW - SYNDROME TYPE IIA
KW - USHER-SYNDROME
U2 - 10.1136/bjophthalmol-2020-315878
DO - 10.1136/bjophthalmol-2020-315878
M3 - Journal article
C2 - 32188678
VL - 105
SP - 87
EP - 92
JO - British Journal of Ophthalmology
JF - British Journal of Ophthalmology
SN - 0007-1161
IS - 1
ER -
ID: 254661204