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[Analysis of pathogenic variants of USH2A gene in a child with Usher syndrome type II]
Kefeng Tang1, Liyan Jiang, Juan Yao
1Huzhou Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313000, China. 94612701@qq.com.
Objective:
To detect pathogenic variant in a child featuring Usher syndrome type II.
Methods:
Peripheral blood samples of the child and his parents were collected for the analysis of variants of hearing impairment-related genes. The findings were verified in 100 individuals with normal hearing.
Results:
The child was found to harbor compound heterozygous variants of the USH2A gene, namely c.8224-1G>C in intron 41 and c.5678C>G(p.Ser1893X) in exon 28, which were inherited respectively from his mother and father. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.8224-1G>C and c.5678C>G(p.Ser1893X) variants of USH2A gene were predicted to be pathogenic(PVS1+PM2+PM3).
Conclusion:
The compound heterozygous variants c.8224-1G>C and c.5678C>G of the USH2A gene probably underlay the disease in this child. Above finding has enriched the spectrum of USH2A gene variants.
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