ARCI7 Revisited and Repositioned Janan Mohamad, Natalya Malchin, Stavit Shalev, Ofer Sarig, Eli Sprecher  Journal of Investigative Dermatology  Volume 137, Issue 4, Pages 970-972 (April 2017) DOI: 10.1016/j.jid.2016.12.008 Copyright © 2016 The Authors Terms and Conditions

Figure 1 Molecular analysis of ARCI7-related families. The two families initially reported as affected with ARCI resulting from mutations linked to ARCI7 were reassessed. (a) Family 1 (left panel) comprises the restricted kindred reported in the initial report of ARCI7 (Mizrachi-Koren et al., 2005) boxed in red, as well as two additional branches, one of which (boxed in blue) led to the identification of a causative homozygous mutation in ALOX12B (c.1670T>A) in all affected individuals (right upper panel). Healthy siblings of affected individuals were either heterozygous carriers of the mutation (right middle panel) or homozygous carriers of the wild-type (WT) allele (right lower panel). +/+ denotes homozygous carriers of c.1670T>A; +/− denotes heterozygous carriers of c.1670T>A; −/− denotes homozygous carriers of the WT allele. (b) Family 2 (left panel) comprises two affected individuals who were found to carry a homozygous mutation in SDR9C7 (c.774-795del) (right upper panel). Healthy family members were either heterozygous carriers of the mutation (right lower panel) or homozygous carriers of the WT allele (right middle panel). +/+ denotes homozygous carriers of c.774-795del; +/− denotes heterozygous carriers of c.774-795del; −/− denotes homozygous carriers of the WT allele. ARCI, autosomal recessive congenital ichthyoses. Journal of Investigative Dermatology 2017 137, 970-972DOI: (10.1016/j.jid.2016.12.008) Copyright © 2016 The Authors Terms and Conditions