Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis

• We presented the first report of Xp22.3 micro-deletions underlying isolated XLI in seventeen familial cases representing major ethnic groups living in Pakistan.
• Four distinct micro deletions ∼1.67 Mb, ∼1.62 Mb, ∼1.24 Mb and ∼1.23 Mb were identified in genetic analysis.
• SNP array fine mapped the breakpoints of two most prevalent micro-deletions at Xp22.3
• A rare genetic finding of homozygous micro-deletion in two affected sisters with profound cutaneous scaling.