A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2

    January 2023 in “ Revista Paulista de Pediatria ”
    Michele Patricia Migliavacca, Rodrigo Ambrósio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana B. Pérez, David Valle, Elizabeth Wohler, Nara Sobreira, Salmo Raskin
    Image
    Studysummary This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
    This study reports on a Brazilian male patient diagnosed with IFAP syndrome, a rare X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, along with additional anomalies such as severe congenital ichthyosis, cryptorchidism, limb malformation, and features of BRESHECK syndrome. The patient's condition was found to be caused by a rare missense variant in the MBTPS2 gene, identified through whole-exome sequencing. This variant was not present in other family members, making this the first documented case of IFAP syndrome in Brazil with a molecular investigation, thereby contributing to the understanding of the genetic variations associated with this syndrome.
    Discuss this study in the Community →

    Research cited in this study

    1 / 1 results