NDLI: Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2

Content Provider	Springer Nature : BioMed Central
Author	He, Chenhao Liu, Xinyu Zhong, Zilin Chen, Jianjun
Abstract	Background Usher syndrome (USH) is the most prevalent cause of the human genetic deafness and blindness. USH type II (USH2) is the most common form of USH, and USH2A is the major pathogenic gene for USH2. For expanding the spectrum of USH2A mutations and further revealing the role of USH2A in USH2, we performed the USH2A gene variant screening in Chinese patients with USH2. Methods Genomic DNA was extracted from peripheral blood of unrelated Chinese USH2 patients, we designed specific primers for amplifying the coding region (exons 2–72) of the USH2A gene. Sanger sequencing was used to study alleles. Silico prediction tools were used to predict the pathogenicity of the variants identified in these patients. Results Five heterozygous pathogenic variants were detected in four patients. Two patients were found to have two-mutations and two patients only have one. Two novel variants c.4217C > A (p.Ser1406X) and c.11780A > G (p.Asp3927Gly)) were predicted deleterious by computer prediction algorithms. In addition, three reported mutations (c.8559-2A > G, c.8232G > C and c.11389 + 3A > T) were also found in this study. Conclusions We identified five heterozygous pathogenic variants in the USH2A gene in Chinese patients diagnosed with Usher syndrome type 2, two of which were not reported. It expands the spectrum of USH2A variants in USH.
Related Links	https://bmcophthalmol.biomedcentral.com/counter/pdf/10.1186/s12886-020-01342-y.pdf
Ending Page	9
Page Count	9
Starting Page	1
File Format	HTM / HTML
ISSN	14712415
DOI	10.1186/s12886-020-01342-y
Journal	BMC Ophthalmology
Issue Number	1
Volume Number	20
Language	English
Publisher	BioMed Central
Publisher Date	2020-02-24
Access Restriction	Open
Subject Keyword	Ophthalmology USH2A Usher syndrome Mutations Sequence variants
Content Type	Text
Resource Type	Article
Subject	Ophthalmology
Journal Impact Factor	1.7/2023
5-Year Journal Impact Factor	2/2023

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