TY - JOUR
T1 - Um caso brasileiro de síndrome IFAP com ictiose congênita grave e malformações de membros causadas por uma variante rara em MBTPS2
AU - Migliavacca, Michele Patricia
AU - Fock, Rodrigo Ambrosio
AU - Almeida, Nadia
AU - Cavalcanti, Thereza
AU - Villela, Darine
AU - Alvarez Perez, Ana Beatriz
AU - Valle, David
AU - Wohler, Elizabeth
AU - de Macena Sobreira, Nara Lygia
AU - Raskin, Salmo
N1 - Funding Information:
Our study was supported by a grant from the National Institutes of Health/National Human Genome Research Institute (no. 1U54HG006542).
Publisher Copyright:
© 2023 Sao Paulo Pediatric Society. All rights reserved.
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
KW - BRESHECK syndrome
KW - IFAP syndrome
KW - Ichthyosis congenital
KW - Limb malformations
KW - MBTPS2
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U2 - 10.1590/1984-0462/2023/41/2022057
DO - 10.1590/1984-0462/2023/41/2022057
M3 - Article
C2 - 37042943
AN - SCOPUS:85152494216
SN - 0103-0582
VL - 41
JO - Revista Paulista de Pediatria
JF - Revista Paulista de Pediatria
M1 - e2022057
ER -