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dc.contributor.authorOtto, Edgar A.en_US
dc.contributor.authorSayer, John A.en_US
dc.contributor.authorUtsch, Borisen_US
dc.contributor.authorEccles, Michaelen_US
dc.contributor.authorPereira, Rob Rodriguesen_US
dc.contributor.authorAttanasio, Massimoen_US
dc.contributor.authorHennies, Hans-Christianen_US
dc.contributor.authorHildebrandt, Friedhelmen_US
dc.date.accessioned2006-09-11T19:26:18Z
dc.date.available2006-09-11T19:26:18Z
dc.date.issued2006-01en_US
dc.identifier.citationUtsch, 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.issn0931-041Xen_US
dc.identifier.issn1432-198Xen_US
dc.identifier.urihttps://hdl.handle.net/2027.42/47827
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=10592488&dopt=citationen_US
dc.description.abstractJoubert 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.extent202859 bytes
dc.format.extent3115 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherSpringer-Verlag; IPNAen_US
dc.subject.otherJoubert Syndromeen_US
dc.subject.otherAHI1en_US
dc.subject.otherMutational Analysisen_US
dc.subject.otherRenal Failureen_US
dc.subject.otherNephronophthisisen_US
dc.titleIdentification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelPublic Healthen_US
dc.subject.hlbsecondlevelPediatricsen_US
dc.subject.hlbsecondlevelInternal Medicine and Specialtiesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartments 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, USAen_US
dc.contributor.affiliationumDepartments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Pediatrics, University Erlangen-Nuremberg, Erlangen, Germanyen_US
dc.contributor.affiliationumDepartments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USAen_US
dc.contributor.affiliationumDepartments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USAen_US
dc.contributor.affiliationumDepartments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USAen_US
dc.contributor.affiliationotherMedical Center Rijnmond South, Department of Pediatrics, Rotterdam, The Netherlandsen_US
dc.contributor.affiliationotherDevelopmental Genetics Laboratory, Pathology Department, University of Otago, Otago, New Zealanden_US
dc.contributor.affiliationotherGene Mapping Center, University of Cologne, Cologne, Germanyen_US
dc.contributor.affiliationumcampusAnn Arboren_US
dc.identifier.pmid10592488en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/47827/1/467_2005_Article_2054.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1007/s00467-005-2054-yen_US
dc.identifier.sourcePediatric Nephrologyen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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