Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
In: Clinical & Experimental Nephrology, Jg. 21 (2017-02-01), Heft 1, S. 136-142
Online
academicJournal
Zugriff:
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. [ABSTRACT FROM AUTHOR]
Titel: |
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
|
---|---|
Autor/in / Beteiligte Person: | Yamamura, Tomohiko ; Morisada, Naoya ; Nozu, Kandai ; Minamikawa, Shogo ; Ishimori, Shingo ; Toyoshima, Daisaku ; Ninchoji, Takeshi ; Yasui, Masato ; Taniguchi-Ikeda, Mariko ; Morioka, Ichiro ; Nakanishi, Koichi ; Nishio, Hisahide ; Iijima, Kazumoto |
Link: | |
Zeitschrift: | Clinical & Experimental Nephrology, Jg. 21 (2017-02-01), Heft 1, S. 136-142 |
Veröffentlichung: | 2017 |
Medientyp: | academicJournal |
ISSN: | 1342-1751 (print) |
DOI: | 10.1007/s10157-016-1256-x |
Schlagwort: |
|
Sonstiges: |
|