Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing

Tomohiko Yamamura, Naoya Morisada, Kandai Nozu, Shogo Minamikawa, Shingo Ishimori, Daisaku Toyoshima, Takeshi Ninchoji, Masato Yasui, Mariko Taniguchi-Ikeda, Ichiro Morioka, Koichi Nakanishi, Hisahide Nishio, Kazumoto Iijima

研究成果: Article査読

9 被引用数 (Scopus)


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.

ジャーナルClinical and Experimental Nephrology
出版ステータスPublished - 01-02-2017

All Science Journal Classification (ASJC) codes

  • 生理学
  • 腎臓病学
  • 生理学(医学)


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