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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 |
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| Main Authors: | , , , , , , , , , , , , , , , , , |
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| container_end_page | 217 |
| container_issue | 3 |
| container_start_page | 214 |
| container_title | Journal of dermatological science |
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| creator | 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 |
| description | 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. |
| doi_str_mv | 10.1016/j.jdermsci.2015.09.007 |
| format | article |
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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</creator><creatorcontrib>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</creatorcontrib><description>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.</description><identifier>ISSN: 0923-1811</identifier><identifier>EISSN: 1873-569X</identifier><identifier>DOI: 10.1016/j.jdermsci.2015.09.007</identifier><identifier>PMID: 26481779</identifier><language>eng</language><publisher>Netherlands: Elsevier Ireland Ltd</publisher><subject>Base Sequence ; 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| source | Elsevier:Jisc Collections:Elsevier Read and Publish Agreement 2022-2024:Freedom Collection (Reading list) |
| subjects | Base Sequence Case-Control Studies Dermatology Genotype Humans Ichthyosis, X-Linked - genetics Male Pedigree Phenotype Polymorphism, Single Nucleotide Sequence Deletion Steryl-Sulfatase - genetics |
| title | Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis |
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