Clinical and Genetic Investigation of Ichthyosis in Familial and Sporadic Cases in Southern Tunisia: Genotype–Phenotype Correlation

    January 2022 in “ BMC Medical Genomics ”
    Mariem Ennouri, Andreas Zimmer, E. Bahloul, R. Chaabouni, Slaheddine Marrakchi, H. Turki, Faiza Fakhfakh, Noura Bougacha‐Elleuch, Judith Fischer
    TLDR Different gene mutations cause different types of ichthyosis, with some new mutations found.
    The study investigated ichthyosis in 11 Tunisian patients, identifying 8 mutations across 5 genes, with 3 novel mutations. It focused on genotype-phenotype correlations, finding that NIPAL4 mutations were linked to non-syndromic Congenital Ichthyosiform Erythroderma (CIE) and yellowish severe keratoderma, while TGM1 mutations were associated with Lamellar Ichthyosis (LI) and features like brachydactyly and alopecia. The study highlighted phenotypic heterogeneity and suggested the involvement of modifier genes, emphasizing the need for whole-genome investigations to better understand the genetic basis of phenotypic variations in ichthyosis.
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