Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
dc.contributor.author | Lehman, A. M. | en_US |
dc.contributor.author | Eydoux, P. | en_US |
dc.contributor.author | Doherty, D. | en_US |
dc.contributor.author | Glass, I. A. | en_US |
dc.contributor.author | Chitayat, D. | en_US |
dc.contributor.author | Chung, B. Y. H. | en_US |
dc.contributor.author | Langlois, S. | en_US |
dc.contributor.author | Yong, S. L. | en_US |
dc.contributor.author | Lowry, R. B. | en_US |
dc.contributor.author | Hildebrandt, Friedhelm | en_US |
dc.contributor.author | Trnka, P. | en_US |
dc.date.accessioned | 2010-06-02T19:51:22Z | |
dc.date.available | 2011-03-01T16:26:47Z | en_US |
dc.date.issued | 2010-06 | en_US |
dc.identifier.citation | Lehman, A.M.; Eydoux, P.; Doherty, D.; Glass, I.A.; Chitayat, D.; Chung, B.Y.H.; Langlois, S.; Yong, S.L.; Lowry, R.B.; Hildebrandt, F.; Trnka, P. (2010). "Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy." American Journal of Medical Genetics Part A 152A(6): 1411-1419. <http://hdl.handle.net/2027.42/75791> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/75791 | |
dc.description.abstract | Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy, an association that adds to the observation of common final patterns of malformations in ciliary disorders. Using homozygosity mapping in the siblings, we were able to exclude all known genes/loci for both syndromes except for INVS , AHI1 , and three genes from the previously described Jeune locus at 15q13. No pathogenic variants were found in these genes by direct sequencing. In the third child reported, sequencing of RPGRIP1L , ARL13B , AHI1 , TMEM67 , OFD1 , CC2D2A , and deletion analysis of NPHP1 showed no mutations. Although this study failed to identify a mutation in the patients tested, the co-occurrence of Joubert and Jeune syndromes is likely to represent a distinct entity caused by mutations in a yet to be discovered gene. The mechanisms by which certain organ systems are affected more than others in the spectrum of ciliary diseases remain largely unknown. © 2010 Wiley-Liss, Inc. | en_US |
dc.format.extent | 223838 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
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 | Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy | 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.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Howard Hughes Medical Institute, Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada | en_US |
dc.contributor.affiliationother | Department of Pathology, University of British Columbia, Vancouver, BC, Canada | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University of Washington, Seattle, Washington | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University of Washington, Seattle, Washington | en_US |
dc.contributor.affiliationother | Division of Clinical Genetics, University of Toronto, Ontario | en_US |
dc.contributor.affiliationother | Division of Clinical Genetics, University of Toronto, Ontario | en_US |
dc.contributor.affiliationother | Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada | en_US |
dc.contributor.affiliationother | Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada | en_US |
dc.contributor.affiliationother | Departments of Medical Genetics and Pediatrics, University of Calgary, Calgary, Alberta, Canada | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada ; Clinical Assistant Professor, Pediatric Nephrology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, ACB, K4–152, 4480, Vancouver, BC V6H3V4. | en_US |
dc.identifier.pmid | 20503315 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/75791/1/33416_ftp.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.33416 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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