Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
dc.contributor.author | Otto, Edgar A. | en_US |
dc.contributor.author | Sayer, John A. | en_US |
dc.contributor.author | Utsch, Boris | en_US |
dc.contributor.author | Eccles, Michael | en_US |
dc.contributor.author | Pereira, Rob Rodrigues | en_US |
dc.contributor.author | Attanasio, Massimo | en_US |
dc.contributor.author | Hennies, Hans-Christian | en_US |
dc.contributor.author | Hildebrandt, Friedhelm | en_US |
dc.date.accessioned | 2006-09-11T19:26:18Z | |
dc.date.available | 2006-09-11T19:26:18Z | |
dc.date.issued | 2006-01 | en_US |
dc.identifier.citation | Utsch, Boris; Sayer, John A.; Attanasio, Massimo; Pereira, Rob Rodrigues; Eccles, Michael; Hennies, Hans-Christian; Otto, Edgar A.; Hildebrandt, Friedhelm; (2006). "Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome." Pediatric Nephrology 21(1): 32-35. <http://hdl.handle.net/2027.42/47827> | en_US |
dc.identifier.issn | 0931-041X | en_US |
dc.identifier.issn | 1432-198X | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47827 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=10592488&dopt=citation | en_US |
dc.description.abstract | Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal eye movements. Some individuals have progressive renal failure characterized by nephronophthisis (NPHP) and/or retinal dystrophy. Homozygous deletions of NPHP1 on chromosome 2q13 have been identified in individuals with NPHP-associated JBTS. Recently, mutations in AHI1 on chromosome 6q23.3 were found in JBTS patients without NPHP. Here, by direct sequencing, we identify novel truncating mutations within AHI1 in affected patients from two families. One patient had the association of JBTS and NPHP with chronic renal failure. This is the first report of AHI1 mutations causing JBTS associated with NPHP, confirming the clinical and genetic heterogeneity of NPHP. | en_US |
dc.format.extent | 202859 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag; IPNA | en_US |
dc.subject.other | Joubert Syndrome | en_US |
dc.subject.other | AHI1 | en_US |
dc.subject.other | Mutational Analysis | en_US |
dc.subject.other | Renal Failure | en_US |
dc.subject.other | Nephronophthisis | en_US |
dc.title | Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Public Health | en_US |
dc.subject.hlbsecondlevel | Pediatrics | en_US |
dc.subject.hlbsecondlevel | Internal Medicine and Specialties | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USA; University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI, 48109-0646, USA | en_US |
dc.contributor.affiliationum | Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Pediatrics, University Erlangen-Nuremberg, Erlangen, Germany | en_US |
dc.contributor.affiliationum | Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationother | Medical Center Rijnmond South, Department of Pediatrics, Rotterdam, The Netherlands | en_US |
dc.contributor.affiliationother | Developmental Genetics Laboratory, Pathology Department, University of Otago, Otago, New Zealand | en_US |
dc.contributor.affiliationother | Gene Mapping Center, University of Cologne, Cologne, Germany | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 10592488 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47827/1/467_2005_Article_2054.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/s00467-005-2054-y | en_US |
dc.identifier.source | Pediatric Nephrology | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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