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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Human Genetics, Volume 123, No. 5, Year 2008
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Description
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. © Springer-Verlag 2008.
Authors & Co-Authors
Jaeckle Santos, Lane J.
Unknown Affiliation
Xing, Chao
Unknown Affiliation
Barnes, Robert B.
Unknown Affiliation
Adés, Lesley C.
Unknown Affiliation
Megarbane, Andre
Unknown Affiliation
Vidal, Christopher
Unknown Affiliation
Xuereb, Angela
Unknown Affiliation
Tarpey, Patrick S.
Unknown Affiliation
Smith, Raffaella
Unknown Affiliation
Khazab, Mahmoud
Unknown Affiliation
Shoubridge, Cheryl
Unknown Affiliation
Partington, Michael
Unknown Affiliation
Futreal, Phillip Andrew
Unknown Affiliation
Michael R. Stratton, Michael R.
Unknown Affiliation
Gécz, J.
Unknown Affiliation
Zinn, Andrew R.
Unknown Affiliation
Statistics
Citations: 19
Authors: 16
Affiliations: 9
Identifiers
Doi:
10.1007/s00439-008-0498-4
ISSN:
03406717
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Participants Gender
Male