Analysis of OTOGL gene variants in a child with moderate non-syndromic hearing loss / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 761-764, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-888389
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with moderate non-syndromic hearing loss.@*METHODS@#Next generation sequencing was carried out for the child. Co-segregation of the phenotype and candidate variants was verified among his family members by Sanger sequencing.@*RESULTS@#The child was found to harbor biallelic variants of the OTOGL gene, namely c.2773C>T (p.Arg925Ter) and c.2826C>G (p.Tyr942Ter), which were respectively inherited from his phenotypically normal father and mother. Both variants were predicted to cause premature termination of protein synthesis and be disease causing by MutationTaster software. The c.2826C>G (p.Tyr942Ter) variant has not been recorded in the Human Gene Mutation Database. Based on the guidelines of the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PM4+PP3+PP5 and PVS1+PM2+PM4+PP3, respectively).@*CONCLUSION@#The c.2773C>T (p.Arg925Ter) and c.2826C>G (p.Tyr942Ter) variants of the OTOGL gene probably underlay the hearing loss in this child.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fenótipo
/
Família
/
Genômica
/
Surdez
/
Proteínas de Membrana
/
Mutação
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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