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Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic causes and clinical picture has not been described to date.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Our study included 19 families from Saudi Arabia, Yemen, and Pakistan. All patients were born to consanguineous parents and diagnosed with ARCI. Mutations were analyzed by homozygosity mapping and direct sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We have detected mutations in all families in five different genes: <jats:italic>TGM1<\/jats:italic>, <jats:italic>ABCA12<\/jats:italic>, <jats:italic>CYP4F22<\/jats:italic>, <jats:italic>NIPAL4<\/jats:italic>, and <jats:italic>ALOXE3<\/jats:italic>. Five likely pathogenic variants were unknown so far, a splice site and a missense variant in <jats:italic>TGM1<\/jats:italic>, a splice site variant in <jats:italic>NIPAL4<\/jats:italic>, and missense variants in <jats:italic>ABCA12<\/jats:italic> and <jats:italic>CYP4F22<\/jats:italic>. We attributed <jats:italic>TGM1 <\/jats:italic>and <jats:italic>ABCA12<\/jats:italic> mutations to the most severe forms of lamellar and erythematous ichthyoses, respectively, regardless of treatment. Other mutations highlighted the presence of a phenotypic spectrum in ARCI.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results contribute to expanding the mutational spectrum of ARCI and revealed new insights into genotype\/phenotype correlations. The findings are instrumental for a faster and more precise diagnosis, a better understanding of the pathophysiology, and the definition of targets for more specific therapies for ARCI.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.539","type":"journal-article","created":{"date-parts":[[2019,1,2]],"date-time":"2019-01-02T05:13:35Z","timestamp":1546406015000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Unknown mutations and genotype\/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6814-8365","authenticated-orcid":false,"given":"Dulce","family":"Lima Cunha","sequence":"first","affiliation":[{"name":"Department of Biological and Geographical Sciences University of Huddersfield Huddersfield UK"},{"name":"Division of Human Genetics Medical University of Innsbruck Innsbruck 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