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

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 fin...

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Published in:Journal of dermatological science 2015-12, Vol.80 (3), p.214-217
Main 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
Format: Article
Language:English
Subjects:
Base Sequence
Case-Control Studies
Dermatology
Genotype
Humans
Ichthyosis, X-Linked - genetics
Male
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sequence Deletion
Steryl-Sulfatase - genetics
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Summary: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.
ISSN:0923-1811
1873-569X
DOI:10.1016/j.jdermsci.2015.09.007