Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.
Pediatr Nephrol
; 25(7): 1343-8, 2010 Jul.
Article
en En
| MEDLINE
| ID: mdl-20130917
ABSTRACT
A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using multiplex ligation-dependent probe amplification (MLPA) analysis, a heterozygous EYA1 gene deletion comprising at least exons 5 to 7. In her parents, we did not detect any deletion in EYA1 by MLPA, so the deletion was a de novo mutation. PCR analysis and sequencing of patient DNA revealed a heterozygous approximately 17 kb EYA1 deletion starting from the eight last bases of exon 4 and proceeding to base 1,217 of intron 7. Furthermore, in place of this deleted region was inserted a 3756-bp-long interspersed nuclear elements-1 (LINE-1, L1). Accordingly, RT-PCR showed that exons 4-7 were not present in EYA1 mRNA expressed from the mutated allele. Although there are reports of L1 element insertion occurring in various human diseases, this is the first report of a large EYA1 deletion in combination with L1 element insertion.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Región Branquial
/
Proteínas Nucleares
/
Mutagénesis Insercional
/
Proteínas Tirosina Fosfatasas
/
Eliminación de Gen
/
Elementos de Nucleótido Esparcido Largo
/
Péptidos y Proteínas de Señalización Intracelular
/
Oído
/
Riñón
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Nephrol
Asunto de la revista:
NEFROLOGIA
/
PEDIATRIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Japón