| Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. | |
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MedLine Citation:
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PMID: 20503315 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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A M Lehman; P Eydoux; D Doherty; I A Glass; D Chitayat; B Y H Chung; S Langlois; S L Yong; R B Lowry; F Hildebrandt; P Trnka |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-26 Completed Date: 2010-08-30 Revised Date: 2011-05-10 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1411-9 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis,
genetics* Asphyxia / diagnosis, genetics* Child Ciliary Motility Disorders / diagnosis, genetics* Female Genes Homozygote Humans Magnetic Resonance Imaging Male Radiography, Thoracic Sequence Analysis, DNA Syndrome Thorax / abnormalities* |
| Grant Support | |
ID/Acronym/Agency:
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KL2 RR025015-01/RR/NCRR NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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