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A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
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 metal...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade de Pediatria de São Paulo
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108828/ https://www.ncbi.nlm.nih.gov/pubmed/37042943 http://dx.doi.org/10.1590/1984-0462/2023/41/2022057 |
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author | 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 |
author_facet | 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 |
author_sort | Migliavacca, Michele Patricia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10108828 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Sociedade de Pediatria de São Paulo |
record_format | MEDLINE/PubMed |
spelling | pubmed-101088282023-04-18 A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in 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 Case Report 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. Sociedade de Pediatria de São Paulo 2023-04-07 /pmc/articles/PMC10108828/ /pubmed/37042943 http://dx.doi.org/10.1590/1984-0462/2023/41/2022057 Text en https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License |
spellingShingle | Case Report 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 A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 |
title | A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
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title_full | A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
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title_fullStr | A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
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title_full_unstemmed | A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
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title_short | A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
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title_sort | brazilian case of ifap syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in mbtps2 |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108828/ https://www.ncbi.nlm.nih.gov/pubmed/37042943 http://dx.doi.org/10.1590/1984-0462/2023/41/2022057 |
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