Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis. Issue 3 (December 2015)

• Record Type: Journal Article
• Authors: Ali, Raja Hussain; Mahmood, Sabba; Raza, Syed Irfan; Aziz, Abdul; Irfanullah, ; Naqvi, Syed Kamran-ul-Hassan; Wasif, Naveed; Ansar, Muhammad; Ahmad, Wasim; Shah, Sayed Hajan; Khan, Bakht Tarin; Zaman, Qaiser; Gul, Ajab; Wali, Abdul; Ali, Ghazanfar; Khan, Saadulah; Khisroon, Muhammad; Basit, Sulman
• Is Part Of: Journal of dermatological science. Volume 80:Issue 3(2015:Dec.)
• Page Start: 214
• Page End: 217
• Publication Date: 2015-12
• Subjects: Dermatology -- Periodicals; Skin Diseases -- Periodicals; Dermatologie -- Périodiques; 616.5005
• DOI: 10.1016/j.jdermsci.2015.09.007
• Languages: English
• ISSNs: 0923-1811

Abstract

Highlights: 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.