Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
Clin Exp Nephrol
; 21(1): 136-142, 2017 Feb.
Article
en En
| MEDLINE
| ID: mdl-26968886
ABSTRACT
BACKGROUND:
Nephronophthisis-related ciliopathies (NPHP-RC) are a frequent cause of renal failure for children and adolescents. Although diagnosing these diseases clinically is difficult, a comprehensive genetic screening approach of targeted resequencing can uncover the genetic background in this complicated family of diseases.METHODS:
We studied three Japanese female patients with renal insufficiency from non-consanguineous parents. A renal biopsy for clinical reasons was not performed. Therefore, we did not know the diagnosis of these patients from a clinical aspect. We performed comprehensive genetic analysis using the TruSight One Sequencing Panel next generation sequencing technique.RESULTS:
We identified three different rare NPHP-RC variants in the following genes SDCCAG8, MKKS, and WDR35. Patient 1 with SDCCAG8 homozygous deletions showed no ciliopathy-specific extrarenal manifestations, such as retinitis pigmentosa or polydactyly prior to genetic analysis. Patient 2 with a MKKS splice site homozygous mutation and a subsequent 39-amino acid deletion in the substrate-binding apical domain, had clinical symptoms of Bardet-Biedl syndrome. She and her deceased elder brother had severe renal insufficiency soon after birth. Patient 3 with a compound heterozygous WDR35 mutation had ocular coloboma and intellectual disability.CONCLUSIONS:
Our results suggest that a comprehensive genetic screening system using target resequencing is useful and non-invasive for the diagnosis of patients with an unknown cause of pediatric end-stage renal disease.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Autoantígenos
/
Análisis Mutacional de ADN
/
Proteínas
/
Pruebas Genéticas
/
Eliminación de Secuencia
/
Chaperoninas del Grupo II
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Secuenciación de Nucleótidos de Alto Rendimiento
/
Ciliopatías
/
Enfermedades Renales
/
Proteínas de Neoplasias
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Clin Exp Nephrol
Asunto de la revista:
NEFROLOGIA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Japón
Pais de publicación:
JAPAN
/
JAPON
/
JAPÃO
/
JP