Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22.
Coffin-Lowry syndrome (CLS; MIM 303600) in an uncommon X-linked disorder causing mental retardation and skeletal abnormalities. Most recently it was mapped to a 5.6-centimorgan (cM) region of Xp22, flanked distally by AFM291wf5 and proximally by DXS1052 [Biancalana et al., 1994: Genomics 22:617-625]. We present information which supports this localization and further narrows the region to approximately 3.4 cM. A recombination in a carrier from a British family mean that DXS365 is the closest proximal flanking marker identified to date for the region thought to contain the CLS gene. This information reduces the region of interest by approximately 2.2 cM, a significant decrease in terms of the scale of effort which will be required to isolate and analyze candidate genes.
Bird
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Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Collins
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Oley
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Lindsay
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D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002874:Chromosome Mapping; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome