Novel EYA1 variants causing Branchio-oto-renal syndrome.
Int J Pediatr Otorhinolaryngol
; 98: 59-63, 2017 Jul.
Article
en En
| MEDLINE
| ID: mdl-28583505
ABSTRACT
INTRODUCTION:
Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. METHODS AND MATERIALS Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study.RESULTS:
We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families.CONCLUSIONS:
A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
/
Proteínas Tirosina Fosfatasas
/
Síndrome Branquio Oto Renal
/
Péptidos y Proteínas de Señalización Intracelular
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
America do norte
/
America do sul
/
Asia
/
Ecuador
Idioma:
En
Revista:
Int J Pediatr Otorhinolaryngol
Año:
2017
Tipo del documento:
Article
País de afiliación:
Estados Unidos