Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis Communicated by JÜrgen Horst Online Citation: Human Mutation , Mutation in Brief #797 (2005) Online http://www3.interscience.wiley.com/homepages/38515/pdf/797.pdf
dc.contributor.author | Hoefele, Julia | en_US |
dc.contributor.author | Sudbrak, Ralf | en_US |
dc.contributor.author | Reinhardt, Richard | en_US |
dc.contributor.author | Lehrack, Silvia | en_US |
dc.contributor.author | Hennig, Steffen | en_US |
dc.contributor.author | Imm, Anita | en_US |
dc.contributor.author | Muerb, Ulla | en_US |
dc.contributor.author | Utsch, Boris | en_US |
dc.contributor.author | Attanasio, Massimo | en_US |
dc.contributor.author | O'Toole, John F. | en_US |
dc.contributor.author | Otto, Edgar A. | en_US |
dc.contributor.author | Hildebrandt, Friedhelm | en_US |
dc.date.accessioned | 2006-05-17T14:42:59Z | |
dc.date.available | 2006-05-17T14:42:59Z | |
dc.date.issued | 2005-04 | en_US |
dc.identifier.citation | Hoefele, Julia; Sudbrak, Ralf; Reinhardt, Richard; Lehrack, Silvia; Hennig, Steffen; Imm, Anita; Muerb, Ulla; Utsch, Boris; Attanasio, Massimo; O'Toole, John F.; Otto, Edgar; Hildebrandt, Friedhelm (4)."Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis Communicated by JÜrgen Horst Online Citation: Human Mutation , Mutation in Brief #797 (2005) Online http://www3.interscience.wiley.com/homepages/38515/pdf/797.pdf ." Human Mutation 25: 411-411. <http://hdl.handle.net/2027.42/39127> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/39127 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15776426&dopt=citation | en_US |
dc.description.abstract | Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3) were identified as causative. Extrarenal manifestations are known, such as retinitis pigmentosa (Senior-LØken syndrome, SLS) and ocular motor apraxia type Cogan. Recently, we identified a novel gene (NPHP4) as mutated in NPH. To date, a total of only 13 different NPHP4 mutations have been described. To determine the frequency of NPHP4 mutations, we performed mutational analysis by direct sequencing of all 30 NPHP4 exons in 250 different patients with isolated NPH, SLS, or Cogan syndrome ascertained worldwide over 14 years. We identified 23 novel NPHP4 sequence variants in 26/250 different patients (10%). Interestingly, we detected homozygous or compound heterozygous mutations of NPHP4 in only 6/250 different patients (2.4%), but only one heterozygous NPHP4 sequence variant in 20/250 different patients (8%). In the six patients with two NPHP4 mutations, 5/8 mutations (63%) were likely loss-of-function mutations, whereas in the 20 patients with only one sequence variant, only 1/20 (5%) was a likely loss-of-function (i.e., truncating) mutation. We conclude that: i) two recessive mutations in NPHP4 are a rare cause of nephronophthisis; ii) single heterozygous NPHP4 sequence variants are three times more prevalent than two recessive mutations; iii) there is no genotype/phenotype correlation; iv) there must exist further genes causing nephronophthisis, since in 224/250 (90%) patients, no sequence variants in either of the four NPH genes were detected. © 2005 Wiley-Liss, Inc. | en_US |
dc.format.extent | 134808 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis Communicated by JÜrgen Horst Online Citation: Human Mutation , Mutation in Brief #797 (2005) Online http://www3.interscience.wiley.com/homepages/38515/pdf/797.pdf | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Human Genetics, University of Michigan, Ann Arbor, Michigan ; University Children's Hospital, Department of Pediatric Surgery, University of Munich, Munich, Germany | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Human Genetics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Human Genetics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Human Genetics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Human Genetics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Human Genetics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Human Genetics, University of Michigan, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan ; University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, Michigan 48109-0646 | en_US |
dc.contributor.affiliationother | Max-Planck Institute for Molecular Genetics, Berlin, Germany ; Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany | en_US |
dc.contributor.affiliationother | Max-Planck Institute for Molecular Genetics, Berlin, Germany | en_US |
dc.contributor.affiliationother | Max-Planck Institute for Molecular Genetics, Berlin, Germany | en_US |
dc.contributor.affiliationother | Max-Planck Institute for Molecular Genetics, Berlin, Germany | en_US |
dc.contributor.affiliationother | University Children's Hospital Freiburg, Freiburg, Germany | en_US |
dc.identifier.pmid | 15776426 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/39127/1/9326_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/humu.9326 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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