Luiza Monteavaro Mariath

National Institute on Population Medical Genetics

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Lavínia Schüler‐Faccini

Universidade Federal do Rio Grande do Sul

Ana Elisa Kiszewski

University of Health Sciences Antigua

Juliana Tosetto Santin

Universidade Federal de Ciências da Saúde de Porto Alegre

Jeanine Aparecida Frantz

Universidade Regional de Blumenau

Thayne Woycinck Kowalski

Hospital de Clínicas de Porto Alegre

Maria Juliana R. Doriqui

Universidade Federal do Maranhão

Marília Dornelles Bastos

Universidade de Santa Cruz do Sul

Márcia Puñales

Sociedade Brasileira de Diabetes

Balduíno Tschiedel

Grupo Hospitalar Conceição

Erlane Marques Ribeiro

Hospital Infantil Albert Sabin

Cooperative Institutions

Universidade Federal do Rio Grande do Sul

Hospital de Clínicas de Porto Alegre

National Institute on Population Medical Genetics

Universidade Federal de Ciências da Saúde de Porto Alegre

Universidade de Santa Cruz do Sul

University of Rio Grande and Rio Grande Community College

Universidade Federal do Rio Grande

Santa Casa Hospital

Universidade de São Paulo

Pontifícia Universidade Católica do Rio Grande do Sul

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Transcriptome meta-analysis of valproic acid exposure in human embryonic stem cells

European Neuropsychopharmacology (2022)

Thayne Woycinck Kowalski Vinícius Oliveira Lord Eduarda Sgarioni Julia do Amaral Gomes Luiza Monteavaro Mariath

Valproic Acid

10.1016/j.euroneuro.2022.04.008

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Citations (5)

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

Clinical Genetics (2019)

Luiza Monteavaro Mariath Juliana Tosetto Santin Jeanine Aparecida Frantz Maria Juliana R. Doriqui Ana Elisa Kiszewski

Abstract Epidermolysis bullosa (EB) is a genodermatosis that encompasses a group of clinically and genetically heterogeneous disorders classified in four major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. Our aim was to characterize recurrent and novel mutations associated to EB in a sample of Brazilian patients. Eighty‐seven patients (25 EBS, 4 JEB and 58 DEB) were studied. We performed a next‐generation sequencing‐based multigene panel through ion torrent technology including 11 genes: KRT5 , KRT14 , PLEC , TGM5 , LAMA3 , LAMB3 , LAMC2 , COL17A1 , ITGB4 , COL7A1 , and FERMT1 . A total of 72 different pathogenic or likely pathogenic variants were identified, 32 of them are novel. The causal variant was detected in 82 patients (efficiency of 94.3%). Pathogenic variants in the residue 125 of KRT14 were identified in 32% of all EBS patients. In DEB patients, four COL7A1 variants were quite frequent, some of them clustered in specific Brazilian regions. Our study extends the spectrum of known mutations in EB and describes, for the first time, the genetic profile of EB patients from Brazil.

Epidermolysis bullosa simplex

Genodermatosis

10.1111/cge.13555

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Citations (33)

Inherited epidermolysis bullosa: update on the clinical and genetic aspects

Anais Brasileiros de Dermatologia (2020)

Luiza Monteavaro Mariath Juliana Tosetto Santin Lavínia Schüler‐Faccini Ana Elisa Kiszewski

Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.

Epidermolysis bullosa simplex

Lamina densa

10.1016/j.abd.2020.05.001

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Citations (80)

Dental anomalies in 14 patients with IP: clinical and radiological analysis and review

Clinical Oral Investigations (2016)

Fernanda D. Santa-Maria Luiza Monteavaro Mariath Cláudia Schermann Poziomczyk Márcia Angélica Peter Maahs Rafael Fabiano Machado Rosa

Agenesis

Dental anomalies

Incontinentia Pigmenti

10.1007/s00784-016-1977-y

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Citations (13)

A large family with CYLD cutaneous syndrome: medical genetics at the community level

Journal of Community Genetics (2019)

Anderson Pontes Arruda Augusto César Cardoso‐dos‐Santos Luiza Monteavaro Mariath Mariléa Furtado Feira Thayne Woycinck Kowalski

Medical genetics

Human genetics

10.1007/s12687-019-00447-2

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Citations (9)

Search for DQ2.5 and DQ8 alleles using a lower cost technique in patients with type 1 diabetes and celiac disease in a population of southern Brazil

Figshare (2018)

Marília Dornelles Bastos Thayne Woycinck Kowalski Márcia Puñales Balduíno Tschiedel Luiza Monteavaro Mariath

ABSTRACT Objective To evaluate the frequency of DQ2.5 and DQ8 alleles using the Tag-single-nucleotide polymorphism (Tag-SNP) technique in individuals with type 1 diabetes mellitus (T1DM) and celiac disease (CD) in southern Brazil. Materials and methods In a prospective design, we performed the search for DQA1*0501 and DQB1*0201 alleles for DQ2.5 and DQB1*0302 for DQ8 through Real-Time Polymerase Chain Reaction (RT-PCR) technique, using TaqMan Genotyping Assays (Applied Biosystems, USA). The diagnosis of CD was established by duodenal biopsy and genotypic determination performed by StepOne Software v2.3. Allelic and genotypic frequencies were compared between groups using Chi-square and Fisher’s exact tests and the multiple comparisons using Finner’s adjustment. Results Three hundred and sixty two patients with a median age of 14 years were divided into 3 groups: T1DM without CD (264); T1DM with CD (32) and CD without T1DM (66). In 97% of individuals with T1DM and CD and 76% of individuals with CD without T1DM, respectively, the alleles DQ2.5 and/or DQ8 were identified (p < 0.001). DQ2.5 was more common in individuals with CD (p = 0.004) and DQ8 was more common in individuals with type 1 diabetes (p = 0.008). Conclusions The evaluation of the alleles for DQ2.5 and DQ8 by Tag-SNP technique showed a high negative predictive value among those with T1DM, similar to that described by the conventional technique. The high frequency of DQ8 alleles in individuals with T1DM did not allow differentiating those at higher risk of developing T1DM.

10.6084/m9.figshare.5862384

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Citations (0)

Epidermólise bolhosa hereditária: atualização dos aspectos clínicos e genéticos

Luiza Monteavaro Mariath Juliana Tosetto Santin Lavínia Schüler‐Faccini Ana Elisa Kiszewski

10.1016/j.abdp.2020.07.006

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Citations (1)

Author response for "An overview of the genetic basis of Epidermolysis Bullosa in Brazil: discovery of novel and recurrent disease‐causing variants"

Luiza Monteavaro Mariath Juliana Tosetto Santin Jeanine Aparecida Frantz Maria Juliana R. Doriqui Ana Elisa Kiszewski

Basis (linear algebra)

10.1111/cge.13555/v2/response1