DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kang, Hee Gyung | ko |
dc.contributor.author | Lee, Hyun Kyung | ko |
dc.contributor.author | Ahn, Yo Han | ko |
dc.contributor.author | Joung, Je-Gun | ko |
dc.contributor.author | Nam, Jaeyong | ko |
dc.contributor.author | Kim, Nayoung K. D. | ko |
dc.contributor.author | Ko, Jung Min | ko |
dc.contributor.author | Cho, Min Hyun | ko |
dc.contributor.author | Shin, Jae Il | ko |
dc.contributor.author | Kim, Joon | ko |
dc.contributor.author | Park, Hye Won | ko |
dc.contributor.author | Park, Young Seo | ko |
dc.contributor.author | Ha, Il-Soo | ko |
dc.contributor.author | Chung, Woo Yeong | ko |
dc.contributor.author | Lee, Dae-Yeol | ko |
dc.contributor.author | Kim, Su Young | ko |
dc.contributor.author | Park, Woong Yang | ko |
dc.contributor.author | Cheong, Hae Il | ko |
dc.date.accessioned | 2017-03-28T05:36:57Z | - |
dc.date.available | 2022-06-02T21:00:53Z | - |
dc.date.created | 2017-02-14 | - |
dc.date.created | 2017-02-14 | - |
dc.date.issued | 2016-08 | - |
dc.identifier.citation | EXPERIMENTAL AND MOLECULAR MEDICINE, v.48 | - |
dc.identifier.issn | 1226-3613 | - |
dc.identifier.uri | http://hdl.handle.net/10203/220757 | - |
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-Loken 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.language | English | - |
dc.publisher | NATURE PUBLISHING GROUP | - |
dc.subject | CONGENITAL HEPATIC-FIBROSIS | - |
dc.subject | BARDET-BIEDL-SYNDROME | - |
dc.subject | JOUBERT-SYNDROME | - |
dc.subject | KIDNEY-DISEASE | - |
dc.subject | COACH SYNDROME | - |
dc.subject | JUVENILE NEPHRONOPHTHISIS | - |
dc.subject | DOMAIN PROTEIN | - |
dc.subject | MUTATIONS | - |
dc.subject | IDENTIFICATION | - |
dc.subject | TYPE-1 | - |
dc.title | Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy | - |
dc.type | Article | - |
dc.identifier.wosid | 000391819000002 | - |
dc.identifier.scopusid | 2-s2.0-84985897963 | - |
dc.type.rims | ART | - |
dc.citation.volume | 48 | - |
dc.citation.publicationname | EXPERIMENTAL AND MOLECULAR MEDICINE | - |
dc.identifier.doi | 10.1038/emm.2016.63 | - |
dc.embargo.terms | 2017-04-02 | - |
dc.contributor.localauthor | Kim, Joon | - |
dc.contributor.nonIdAuthor | Kang, Hee Gyung | - |
dc.contributor.nonIdAuthor | Lee, Hyun Kyung | - |
dc.contributor.nonIdAuthor | Ahn, Yo Han | - |
dc.contributor.nonIdAuthor | Joung, Je-Gun | - |
dc.contributor.nonIdAuthor | Nam, Jaeyong | - |
dc.contributor.nonIdAuthor | Kim, Nayoung K. D. | - |
dc.contributor.nonIdAuthor | Ko, Jung Min | - |
dc.contributor.nonIdAuthor | Cho, Min Hyun | - |
dc.contributor.nonIdAuthor | Shin, Jae Il | - |
dc.contributor.nonIdAuthor | Park, Hye Won | - |
dc.contributor.nonIdAuthor | Park, Young Seo | - |
dc.contributor.nonIdAuthor | Ha, Il-Soo | - |
dc.contributor.nonIdAuthor | Chung, Woo Yeong | - |
dc.contributor.nonIdAuthor | Lee, Dae-Yeol | - |
dc.contributor.nonIdAuthor | Kim, Su Young | - |
dc.contributor.nonIdAuthor | Park, Woong Yang | - |
dc.contributor.nonIdAuthor | Cheong, Hae Il | - |
dc.description.isOpenAccess | Y | - |
dc.type.journalArticle | Article | - |
dc.subject.keywordPlus | CONGENITAL HEPATIC-FIBROSIS | - |
dc.subject.keywordPlus | BARDET-BIEDL-SYNDROME | - |
dc.subject.keywordPlus | JOUBERT-SYNDROME | - |
dc.subject.keywordPlus | KIDNEY-DISEASE | - |
dc.subject.keywordPlus | COACH SYNDROME | - |
dc.subject.keywordPlus | JUVENILE NEPHRONOPHTHISIS | - |
dc.subject.keywordPlus | DOMAIN PROTEIN | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordPlus | IDENTIFICATION | - |
dc.subject.keywordPlus | TYPE-1 | - |
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