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Analysis of pathogenic variants of USH2A gene in a child with Usher syndrome type II / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 966-968, 2021.
Article in Chinese | WPRIM | ID: wpr-921977
ABSTRACT
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.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: United States / Introns / Family / Exons / Extracellular Matrix Proteins / Usher Syndromes Type of study: Prognostic study Limits: Child / Humans Country/Region as subject: North America Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: United States / Introns / Family / Exons / Extracellular Matrix Proteins / Usher Syndromes Type of study: Prognostic study Limits: Child / Humans Country/Region as subject: North America Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article