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It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The present study investigated clinical and molecular characterization of three consanguineous families (A, B, C) segregating two different forms of autosomal recessive congenital ichthyosis (<jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>). Linkage in three consanguineous families (A, B, C) segregating two different forms of <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content> was searched by typing microsatellite and single nucleotide polymorphism marker analysis. Sequencing of the two genes <jats:italic><jats:styled-content style=\"fixed-case\">TGM<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ALOXE<\/jats:styled-content>3<\/jats:italic> was performed by the dideoxy chain termination method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genome\u2010wide linkage analysis established linkage in family A to <jats:italic><jats:styled-content style=\"fixed-case\">TGM<\/jats:styled-content>1<\/jats:italic> gene on chromosome 14q11 and in families B and C to <jats:italic><jats:styled-content style=\"fixed-case\">ALOXE<\/jats:styled-content>3<\/jats:italic> gene on chromosome 17p13. Subsequently, sequencing of these genes using samples from affected family members led to the identification of three novel mutations: a missense variant p.Trp455Arg in <jats:italic><jats:styled-content style=\"fixed-case\">TGM<\/jats:styled-content>1<\/jats:italic> (family A); a nonsense variant p.Arg140* in <jats:italic><jats:styled-content style=\"fixed-case\">ALOXE<\/jats:styled-content>3<\/jats:italic> (family B); and a complex rearrangement in <jats:italic><jats:styled-content style=\"fixed-case\">ALOXE<\/jats:styled-content>3<\/jats:italic> (family C).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present study further extends the spectrum of mutations in the two genes involved in causing <jats:styled-content style=\"fixed-case\">ARCI<\/jats:styled-content>. Characterizing the clinical spectrum resulting from mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">TGM<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ALOXE<\/jats:styled-content>3<\/jats:italic> genes will improve diagnosis and may direct clinical care of the family members.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.12950","type":"journal-article","created":{"date-parts":[[2015,11,18]],"date-time":"2015-11-18T05:15:01Z","timestamp":1447823701000},"page":"524-530","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel mutations in the genes <i><scp>TGM<\/scp>1<\/i> and <i><scp>ALOXE<\/scp>3<\/i> underlying autosomal recessive congenital ichthyosis"],"prefix":"10.1111","volume":"55","author":[{"given":"Rahim","family":"Ullah","sequence":"first","affiliation":[{"name":"Department of Biotechnology Faculty of Biological Sciences 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