Diagnosis and reproductive guidance for a couple carrying a novel c.1893C>T mutation of the TECTA gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 147-150, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-775792
ABSTRACT
OBJECTIVE@#To explore the molecular basis for an individual with postnatal deafness and provide genetic counseling for her family.@*METHODS@#Following extraction of genomic DNA from peripheral blood samples, 127 genes associated with deafness were subjected to targeted capturing and next generation sequencing. Suspected mutation was verified by Sanger sequencing.@*RESULTS@#The proband was found to carry a homozygous c.1893C>A mutation in the TECTA gene, which is located in the tectorial membrane of inner ear and may cause premature termination of translation of TECTA protein. In addition, two heterozygous mutations, c.13010C>T and c.12790G>A, were found in the USH2A gene. Whilst the former is likely to be pathogenic, the latter has unknown clinical significance. Further analysis suggested that all three mutations have derived from the parents of the proband.@*CONCLUSION@#The homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Proteínas da Matriz Extracelular
/
Surdez
/
Proteínas Ligadas por GPI
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Homozigoto
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Guia de Prática Clínica
Limite:
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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