De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.
Ann Otol Rhinol Laryngol
; 124 Suppl 1: 169S-76S, 2015 May.
Article
em En
| MEDLINE
| ID: mdl-25792666
ABSTRACT
OBJECTIVES:
In this report, we present a male patient with no family history of hearing loss, in whom we identified a novel de novo mutation in the POU3F4 gene.METHODS:
One hundred ninety-four (194) Japanese subjects from unrelated and nonconsanguineous families were enrolled in this study. We used targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes for identifying the genetic causes of hearing loss.RESULTS:
A novel de novo frameshift mutation of POU3F4 to c.727_728insA (p.N244KfsX26) was identified. The patient was a 7-year-old male with congenital progressive hearing loss and inner ear deformity. Although the patient had received a cochlear implant, auditory skills were still limited. The patient also exhibited developmental delays similar to those previously associated with POU3F4 mutation.CONCLUSION:
This is the first report of a mutation in POU3F4 causing hearing loss in a Japanese patient without a family history of hearing loss. This study underscores the importance of comprehensive genetic testing of patients with hearing loss for providing accurate prognostic information and guiding the optimal management of patient rehabilitation.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Mutação da Fase de Leitura
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Fatores do Domínio POU
Tipo de estudo:
Prognostic_studies
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Risk_factors_studies
Limite:
Child
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article