Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/52295
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dc.contributor.authorJaekle Santos, L.en
dc.contributor.authorXing, C.en
dc.contributor.authorBarnes, R.en
dc.contributor.authorAdes, L.en
dc.contributor.authorMegarbane, A.en
dc.contributor.authorVidal, C.en
dc.contributor.authorXuereb, A.en
dc.contributor.authorTarpey, P.en
dc.contributor.authorSmith, R.en
dc.contributor.authorKhazab, M.en
dc.contributor.authorShoubridge, C.en
dc.contributor.authorPartington, M.en
dc.contributor.authorFutreal, P.en
dc.contributor.authorStratton, M.en
dc.contributor.authorGecz, J.en
dc.contributor.authorZinn, A.en
dc.date.issued2008en
dc.identifier.citationHuman Genetics, 2008; 123(5):469-476en
dc.identifier.issn0340-6717en
dc.identifier.issn1432-1203en
dc.identifier.urihttp://hdl.handle.net/2440/52295-
dc.descriptionThe original publication can be found at www.springerlink.comen
dc.description.abstractX-linked reticulate pigmentary disorder with systemic manifestations in males (PDR) is very rare. Affected males are characterized by cutaneous and visceral symptoms suggestive of abnormally regulated inflammation. A genetic linkage study of a large Canadian kindred previously mapped the PDR gene to a greater than 40 Mb interval of Xp22–p21. The aim of this study was to identify the causative gene for PDR. The Canadian pedigree was expanded and additional PDR families recruited. Genetic linkage was performed using newer microsatellite markers. Positional and functional candidate genes were screened by PCR and sequencing of coding exons in affected males. The location of the PDR gene was narrowed to a ∼4.9 Mb interval of Xp22.11–p21.3 between markers DXS1052 and DXS1061. All annotated coding exons within this interval were sequenced in one affected male from each of the three multiplex families as well as one singleton, but no causative mutation was identified. Sequencing of other X-linked genes outside of the linked interval also failed to identify the cause of PDR but revealed a novel nonsynonymous cSNP in the GRPR gene in the Maltese population. PDR is most likely due to a mutation within the linked interval not affecting currently annotated coding exons.en
dc.description.statementofresponsibilityLane J. Jaeckle Santos, Chao Xing, Robert B. Barnes, Lesley C. Ades, Andre Megarbane, Christopher Vidal, Angela Xuereb, Patrick S. Tarpey, Raffaella Smith, Mahmoud Khazab, Cheryl Shoubridge, Michael Partington, Andrew Futreal, Michael R. Stratton, Jozef Gecz and Andrew R. Zinnen
dc.language.isoenen
dc.publisherSpringeren
dc.subjectHumans; Genetic Diseases, X-Linked; Pigmentation Disorders; Chromosome Mapping; Pedigree; Sequence Analysis, DNA; Haplotypes; Female; Male; Genetic Linkageen
dc.titleRefined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesen
dc.typeJournal articleen
dc.identifier.rmid0020080488en
dc.identifier.doi10.1007/s00439-008-0498-4en
dc.identifier.pubid43562-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidShoubridge, C. [0000-0002-0157-3084]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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