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Novel and recurrent mutations in FLG, ALOXE3 and STS genes underlying different forms of hereditary ichthyosis

Research Paper | June 1, 2019

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Hina Mir, Abdul Haleem Shah, Ayesha Haleem Shah, Wasim Ahmad

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Int. J. Biosci.14( 6), 10-20, June 2019

DOI: http://dx.doi.org/10.12692/ijb/14.6.10-20


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Ichthyoses are group of genetic disorders of cornification with abnormal differentiation and desquamation of the epidermis. Clinically ichthyosis can be distinguished into syndromic ichthyosis and non-syndromic ichthyosis (limited to the skin only). This study presents clinical and molecular characterization of three urelated Pakistani families displaying different forms of hereditary ichthyosis. The objective of the study was to search for pathogenic mutations in FLG, ALOXE3 and STS genes in three Pakistani families with different forms of recessive hereditary ichthyoses. DNA samples of all available affected and unaffected individuals were PCR amplified using microsatellite markers and further analyzed by DNA sequencing. DNA sequence analysis revealed a novel and two previously reported mutations in the genes FLG, ALOXE3 and STS. Deletion mapping showed a deletion of about 1.67Mb region having genes VCX3A, HDHD1, STS, VCX and PNPLA4 in one family with recessive X-linked ichthyosis. This study expandsspectrum of mutations in the genes FLG, ALOXE3 and STS.


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Novel and recurrent mutations in FLG, ALOXE3 and STS genes underlying different forms of hereditary ichthyosis

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