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|dc.contributor.author||Jaekle Santos, L.||en|
|dc.identifier.citation||Human Genetics, 2008; 123(5):469-476||en|
|dc.description||The original publication can be found at www.springerlink.com||en|
|dc.description.abstract||X-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.statementofresponsibility||Lane 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. Zinn||en|
|dc.subject||Humans; Genetic Diseases, X-Linked; Pigmentation Disorders; Chromosome Mapping; Pedigree; Sequence Analysis, DNA; Haplotypes; Female; Male; Genetic Linkage||en|
|dc.title||Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes||en|
|dc.identifier.orcid||Shoubridge, C. [0000-0002-0157-3084]||en|
|dc.identifier.orcid||Gecz, J. [0000-0002-7884-6861]||en|
|Appears in Collections:||Paediatrics publications|
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