Strategy for the Customized Mass Screening of Genetic Sensorineural Hearing Loss in Koreans
Korean Journal of Audiology
;
: 45-49, 2014.
Artículo
en Inglés
| WPRIM
| ID: wpr-61343
ABSTRACT
Hearing loss is one of the most common sensorineural disorder. More than half of congenital bilateral profound deafness cases have been estimated to be attributed to genetic cause. Identification of genetic cause can provide valuable information. We developed new diagnostic strategy combining phenotype-driven candidate gene approach and targeted exome sequencing to find out the causative mutation of hearing loss. The causative mutation detection rates of this strategy were 78.1% and 54.8% in Korean multiplex families and sporadic severe to profound hearing loss families, respectively. The most frequent causative genes of Korean multiplex families were SLC26A4 and POU3F4. The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2. The most frequent causative gene of Korean sporadic severe to profound hearing loss families was SLC26A4 followed by GJB2, CHD7, and CDH23. Based upon the results, the value of this strategy as a diagnostic tool seems to be promising. Although whole genome and exome sequencing have advanced as the development of next-generation sequencing, this new strategy could be a good screening and diagnostic tool to find the causative mutations.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Tamizaje Masivo
/
Genoma
/
Sordera
/
Exoma
/
Pérdida Auditiva
/
Pérdida Auditiva Sensorineural
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Humanos
Idioma:
Inglés
Revista:
Korean Journal of Audiology
Año:
2014
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS