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Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
DC Field | Value | Language |
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dc.contributor.author | 신재일 | - |
dc.date.accessioned | 2017-10-26T07:25:26Z | - |
dc.date.available | 2017-10-26T07:25:26Z | - |
dc.date.issued | 2016 | - |
dc.identifier.issn | 1226-3613 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/152008 | - |
dc.description.abstract | Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients. Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior-Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement. In the remaining undiagnosed patients, we applied targeted exome sequencing of 34 ciliopathy-related genes to detect known pathogenic mutations in 7 (16.3%) of 43 patients. Another 18 likely damaging heterozygous variants were identified in 13 NPHP-RC genes in 18 patients. In this study, we report a variety of pathogenic and candidate mutations identified in 55 patients with NPHP-RC in Korea using a step-wise application of two genetic tests. These results support the clinical utility of targeted exome sequencing to resolve the issue of allelic and genetic heterogeneity in NPHP-RC. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Nature Publishing Group | - |
dc.relation.isPartOf | EXPERIMENTAL AND MOLECULAR MEDICINE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adolescent | - |
dc.subject.MESH | Alleles | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | Ciliopathies/diagnosis | - |
dc.subject.MESH | Ciliopathies/genetics* | - |
dc.subject.MESH | Exome* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genetic Heterogeneity | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Infant | - |
dc.subject.MESH | Kidney Diseases, Cystic/diagnosis | - |
dc.subject.MESH | Kidney Diseases, Cystic/genetics* | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Sequence Analysis, DNA/methods | - |
dc.title | Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy | - |
dc.type | Article | - |
dc.publisher.location | United States | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Pediatrics | - |
dc.contributor.googleauthor | Hee Gyung Kang | - |
dc.contributor.googleauthor | Hyun Kyung Lee | - |
dc.contributor.googleauthor | Yo Han Ahn | - |
dc.contributor.googleauthor | Je-Gun Joung | - |
dc.contributor.googleauthor | Jaeyong Nam | - |
dc.contributor.googleauthor | Nayoung KD Kim | - |
dc.contributor.googleauthor | Jung Min Ko | - |
dc.contributor.googleauthor | Min Hyun Cho | - |
dc.contributor.googleauthor | Jae Il Shin | - |
dc.contributor.googleauthor | Joon Kim | - |
dc.contributor.googleauthor | Hye Won Park | - |
dc.contributor.googleauthor | Young Seo Park | - |
dc.contributor.googleauthor | Il-Soo Ha | - |
dc.contributor.googleauthor | Woo Yeong Chung | - |
dc.contributor.googleauthor | Dae-Yeol Lee | - |
dc.contributor.googleauthor | Su Young Kim | - |
dc.contributor.googleauthor | Woong Yang Park | - |
dc.contributor.googleauthor | Hae Il Cheong | - |
dc.identifier.doi | 10.1038/emm.2016.63 | - |
dc.contributor.localId | A02142 | - |
dc.relation.journalcode | J00860 | - |
dc.identifier.eissn | 2092-6413 | - |
dc.identifier.pmid | 27491411 | - |
dc.contributor.alternativeName | Shin, Jae Il | - |
dc.contributor.affiliatedAuthor | Shin, Jae Il | - |
dc.citation.volume | 48 | - |
dc.citation.startPage | 251 | - |
dc.identifier.bibliographicCitation | EXPERIMENTAL AND MOLECULAR MEDICINE, Vol.48 : 251, 2016 | - |
dc.date.modified | 2017-10-24 | - |
dc.identifier.rimsid | 46330 | - |
dc.type.rims | ART | - |
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