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.
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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