A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 / Um caso brasileiro de síndrome IFAP com ictiose congênita grave e malformações de membros causadas por uma variante rara em MBTPS2
Migliavacca, Michele Patricia; Fock, Rodrigo Ambrosio; Almeida, Nadia; Cavalcanti, Thereza; Villela, Darine; Perez, Ana Beatriz Alvarez; Valle, David; Wohler, Elizabeth; Sobreira, Nara Lygia de Macena; Raskin, Salmo.
Rev. Paul. Pediatr. (Ed. Port., Online)
; 41: e2022057, 2023. graf
Artículo
en Inglés
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LILACS-Express
| ID: biblio-1431373
Abstract
Objective:
The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused by pathogenic variants in the MBTPS2 gene, which encodes a zinc metalloprotease that is essential for normal development. This study aimed to report a case of a Brazilian patient with IFAP syndrome presenting skeletal anomalies, which is a rare finding among patients from different families. Case description We describe a male proband with IFAP syndrome showing severe ichthyosis congenita, cryptorchidism, limb malformation, and comprising the BRESHECK syndrome features. Using whole-exome sequencing, we identified a rare missense variant in hemizygosity in the MBTPS2 gene, which had not been identified in other family members.Comments:
This is the first diagnosis of IFAP syndrome in Brazil with a molecular investigation. The present case study thus expands our knowledge on the mutational spectrum of MBPTS2 associated with IFAP syndrome.
Biblioteca responsable:
BR1.1
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