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Article: Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

TitleCo-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
Authors
Issue Date2010
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal Of Medical Genetics Part A, 2010, v. 152 n. 6, p. 1411-1419 How to Cite?
AbstractCiliary 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.
Persistent Identifierhttp://hdl.handle.net/10722/170438
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLehman, AMen_US
dc.contributor.authorEydoux, Pen_US
dc.contributor.authorDoherty, Den_US
dc.contributor.authorGlass, IAen_US
dc.contributor.authorChitayat, Den_US
dc.contributor.authorChung, BYHen_US
dc.contributor.authorLanglois, Sen_US
dc.contributor.authorYong, SLen_US
dc.contributor.authorLowry, RBen_US
dc.contributor.authorHildebrandt, Fen_US
dc.contributor.authorTrnka, Pen_US
dc.date.accessioned2012-10-30T06:08:34Z-
dc.date.available2012-10-30T06:08:34Z-
dc.date.issued2010en_US
dc.identifier.citationAmerican Journal Of Medical Genetics Part A, 2010, v. 152 n. 6, p. 1411-1419en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/170438-
dc.description.abstractCiliary 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.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_US
dc.relation.ispartofAmerican Journal of Medical Genetics Part Aen_US
dc.subject.meshAbnormalities, Multiple - Diagnosis - Geneticsen_US
dc.subject.meshAsphyxia - Diagnosis - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshCiliary Motility Disorders - Diagnosis - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenesen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMagnetic Resonance Imagingen_US
dc.subject.meshMaleen_US
dc.subject.meshRadiography, Thoracicen_US
dc.subject.meshSequence Analysis, DNAen_US
dc.subject.meshSyndromeen_US
dc.subject.meshThorax - Abnormalitiesen_US
dc.titleCo-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophyen_US
dc.typeArticleen_US
dc.identifier.emailChung, BYH:bhychung@hku.hken_US
dc.identifier.authorityChung, BYH=rp00473en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.1002/ajmg.a.33416en_US
dc.identifier.pmid20503315-
dc.identifier.pmcidPMC4048012-
dc.identifier.scopuseid_2-s2.0-77952759306en_US
dc.identifier.hkuros170851-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77952759306&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume152en_US
dc.identifier.issue6en_US
dc.identifier.spage1411en_US
dc.identifier.epage1419en_US
dc.identifier.isiWOS:000278752000011-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridLehman, AM=7006050672en_US
dc.identifier.scopusauthoridEydoux, P=7004732162en_US
dc.identifier.scopusauthoridDoherty, D=35268243200en_US
dc.identifier.scopusauthoridGlass, IA=35413152300en_US
dc.identifier.scopusauthoridChitayat, D=7005750871en_US
dc.identifier.scopusauthoridChung, BYH=7203043997en_US
dc.identifier.scopusauthoridLanglois, S=7005658454en_US
dc.identifier.scopusauthoridYong, SL=7102840427en_US
dc.identifier.scopusauthoridLowry, RB=24566051200en_US
dc.identifier.scopusauthoridHildebrandt, F=7006208592en_US
dc.identifier.scopusauthoridTrnka, P=21834887200en_US

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