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Title: Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Authors: Jaeckle Santos, Lane J.
Xing, Chao
Barnes, Robert B.
Ades, Lesley C.
Megarbane, Andre
Vidal, Christopher
Xuereb-Anastasi, Angela
Tarpey, Patrick S.
Smith, Raffaella
Khazab, Mahmoud
Shoubridge, Cheryl
Partington, Michael
Futreal, Andrew
Stratton, Michael R.
Gecz, Jozef
Zinn, Andrew R.
Keywords: Pigmentation disorders
Gene mapping
Rare diseases -- Epidemiology
Issue Date: 2008
Publisher: Springer-Verlag
Citation: Human Genetics. 2008, Vol.123, p. 469-476.
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.
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