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

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

Key Words: Ichthyosis, recessive,FLG, ALOXE3, STS, VCX.

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

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

Certification: ijb 2019 0012 [Generate Certificate]

Abstract

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

Akiyama M. 2011. Updated molecular genetics and pathogenesis of ichthyosis. Nagoya Journal of Medical Sciences 73, 79-90.

Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M,Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, SawamuraD, Shimizu H. 2005. Mutations in ABCA12 in harlequin ichthyosis and functional rescue by corrective gene transfer. Journal of Clinical Investigations 115, 1777-1784.

Bergner EA, Shapiro LJ. 1988. Metabolism of 3H-dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency. Journal of Inherited Metabolic Diseases11, 403-415.

Dale BA, Resing KA, Lonsdale-Eccles JD. 1985. Filaggrin: a keratin filament associated protein. Annals of New York Academy of Sciences 455, 330-342.

Elias PM, Crumrine D, Rassner U, Hachem JP, Menon GK, Man W, Choy MH, Leypoldt L, Feingold K, Williams ML. 2004. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. Journal of Investigative Dermatology 122, 314-319.

Elias PM, Williams ML, Maloney ME, Bonifas JA, Brown BE, Grayson S, Epstein EH Jr. 1984. Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. Journal of clinical Investigations 74, 1414-1421.

Epstein EH Jr, Williams ML. 1981. Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion. Archives of Dermatology 117, 761-763.

Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le-Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, FontaineJ, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, AndréC, Fischer J. 2012. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nature Genetics 44, 140-147.

Hoyer H, Lykkesfeldt G, Ibsen HH, Brandrup F. 1986. Ichthyosis of steroid sulphatasedeficiency.Clinical study of 76 cases. Dermatologica172, 184-190.

Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M,Bon A, Lautenschlager S, Schorderet DF, Hohl D. 1995. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267, 525-528.

Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E. 2011. A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis. American Journal Human Genetics 88, 482–487.

Jobard F, Lefèvre C, Karaduman A, Blanchet-Bardon C, Emre S,Weissenbach J, Ozgüc M, Lathrop M, Prud’homme JF, Fischer J. 2002. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in nonbullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Human Molecular Genetics 11, 107-113.

Krieg P, Marks F, Fürstenberger G. 2001. A

gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression. Genomics 73, 300-323.

Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Mégarbané A, Lathrop M, Prud’homme JF, Fischer J. 2006. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Human Molecular Genetics15, 767-776.

Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud’homme JF, Fischer J. 2004. Mutations in ichthyin; anew gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Human Molecular Genetics 13, 2473-2482.

Lefévre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud’homme JF, Fischer J. 2003. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Human Molecular Genetics 12, 2369-2378.

Li XM, Yen PH, Shapiro LJ. 1992. Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions ofthe distal short arm of the human X-chromosome. Nucleic Acids Research 20, 1117-1122.

Matise TC, Chen F, Chen W, De-La-Vega FM, Hansen M, He C,Hyland FC, Kennedy GC, Kong X, Murray SS, Ziegle JS, Stewart WC, Buyske S. 2007. A second-generation combined linkage physical map of the human genome. Genome Research 17, 1783-1786.

Mir H, Khan S, Arif MS, Ali G, Wali A, Ansar M, Ahmad, W. 2012. Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia. European Journal of Dermatology 22, 736-739.

Natsuga K, Akiyama M, Kato N, Sakai K, Sugiyama-Nakagiri Y,Nishimura M, Hata H, Abe M, Arita K, Tsuji-Abe Y, Onozuka T, Aoyagi S, Kodama K, Ujiie H, Tomita Y, Shimizu H. 2007. Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. Journal of Investigative Dermatology127, 2669-2673.

Oji V, Tadini G, Akiyama M, Blanchet-Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van-SteenselM, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. 2010. Revised nomenclature and classification of inherited ichthyoses:Results of the First Ichthyosis Consensus Conference in Sore`ze 2009. Journal of American Academy of Dermatology 63, 607-641.

Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J. 2013. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLoS Genetics 9, e1003536 p.

Rozen S, Skaletsky H. 2000. Primer3 on the WWW for general users and for biologist programmers. Methods in Molecular Biology 132, 365-386.

Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ. 1995. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nature Genetics 9, 279-283.

Smith FJ, Irvine AD, Terron-Kwiatkowski A,

Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-JonesS, Arseculeratne G, Munro CS, Sergeant A, O’Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. 2006. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nature Genetics 38, 337-342.

Steinert PM, Cantieri JS, Teller DC, Lonsdale-Eccles JD, Dale BA. 1981. Characterization of a class of cationic                proteins that specifically interact with intermediate filaments. Proceedings of the National Academy of Sciences USA 78, 4097-4101.

Sybert VP, Dale BA, Holbrook KA. 1985. Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. Journal of Investigative Dermatology 84,191-194.

Vahlquist A. 2010. Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling. Acta Dermato Venereologica 90, 454-460.

Van-Esch H, Hollanders K, Badisco L, Melotte C, Van-Hummelen P,Vermeesch JR, Devriendt K, Fryns JP, Marynen P, Froyen G. 2005. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Human Molecular Genetics14, 1795-1803.

Wahls WP, Wallace LJ, Moore PD.1990. Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells. Cell 60, 95-103.

Webster D, France JT, Shapiro LJ, Weiss R. 1978. X-linked ichthyosis due to steroid sulfatase deficiency. The Lancet 1, 70-72.

Wells RS, Jennings MC. 1967. X-linked ichthyosis and ichthyosis vulgaris. Clinical and genetic distinctions in a second series of families. JAMA202, 485-488.

Yu Z, Schneider C, Boeglin WE, Marnett LJ, Brash AR. 2003. The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase. Proceedings of the National Academy of Sciences USA 100, 9162-9167.

Zettersten E, Man MQ, Sato J, Denda M, Farrell A, Ghadially R, Williams ML, Feingold KR, Elias PM. 1998. Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. Journal of Investigative Dermatology 111, 784-790.

Hina Mir, Abdul Haleem Shah, Ayesha Haleem Shah, Wasim Ahmad.
Novel and recurrent mutations in FLG, ALOXE3 and STS genes underlying different forms of hereditary ichthyosis.
Int. J. Biosci. 14(6), 10-20, June 2019.
https://innspub.net/ijb/novel-recurrent-mutations-flg-aloxe3-sts-genes-underlying-different-forms-hereditary-ichthyosis/
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