Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Int J Pediatr Otorhinolaryngol
; 101: 167-171, 2017 Oct.
Article
en En
| MEDLINE
| ID: mdl-28964290
ABSTRACT
OBJECTIVES:
The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations.METHODS:
Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed.RESULTS:
We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families.CONCLUSION:
A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas de Transporte de Membrana
/
Pérdida Auditiva Sensorineural
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
/
Mexico
Idioma:
En
Revista:
Int J Pediatr Otorhinolaryngol
Año:
2017
Tipo del documento:
Article
País de afiliación:
Estados Unidos