The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.

Barake, Rana; Abou-Rizk, Samer; Nemer, Georges; Bassim, Marc

Barake, Rana; Abou-Rizk, Samer; Nemer, Georges; Bassim, Marc.

Afiliación

Barake R; 1 Department of Otolaryngology - Head & Neck Surgery, American University of Beirut , Beirut, Lebanon .
Abou-Rizk S; 1 Department of Otolaryngology - Head & Neck Surgery, American University of Beirut , Beirut, Lebanon .
Nemer G; 2 Department of Biochemistry and Molecular Genetics Faculty of Medicine, American University of Beirut , Beirut, Lebanon .
Bassim M; 1 Department of Otolaryngology - Head & Neck Surgery, American University of Beirut , Beirut, Lebanon .

Genet Test Mol Biomarkers ; 21(7): 445-449, 2017 Jul.

Article en En | MEDLINE | ID: mdl-28426234

RESUMEN

AIM: To screen for the genetic basis of congenital hearing loss in a Syrian family. METHODS: A Syrian patient living in Lebanon presented with moderate congenital hearing loss. The patient's large nonconsanguineous family was recruited. DNA was extracted from blood samples and sent for whole-exome sequencing. A detailed clinical examination along with audiograms was obtained for all subjects. RESULTS: Hearing loss was noted to be mild to moderate in the low and mid frequencies, sloping to moderate to severe in the high frequencies for all affected members. Results of DNA analysis showed the presence of a previously described p.Arg925* mutation in the OTOGL gene on both alleles in affected family members, whereas nonaffected members either had the wild type or one copy of the mutated allele. DISCUSSION: Mutations affecting the OTOGL gene have been recently connected with nonsyndromic sensorineural hearing loss. Seven such mutations have already been described. The p.Arg925* reported in this study has been found once in a French family. The current report is the first to describe this mutation in a Middle Eastern family.

Asunto(s)

Pérdida Auditiva Sensorineural/genética; Pérdida Auditiva/genética; Proteínas de la Membrana/genética; Adulto; Alelos; Sordera/genética; Exoma; Femenino; Estudios de Asociación Genética/métodos; Predisposición Genética a la Enfermedad; Humanos; Líbano; Masculino; Proteínas de la Membrana/metabolismo; Mutación; Linaje; Polimorfismo de Nucleótido Simple/genética; Factores de Riesgo; Análisis de Secuencia de ADN; Siria

Palabras clave

OTOGL mutation; congenital hearing loss; genetic testing; hearing screening

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pérdida Auditiva / Pérdida Auditiva Sensorineural / Proteínas de la Membrana Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Genet Test Mol Biomarkers Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2017 Tipo del documento: Article País de afiliación: Líbano Pais de publicación: Estados Unidos

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