Mónica Inés Natale

Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot

Sheetal Kumar, Sohail Ahmed, Pietro Incardona, Nicole Cesarato et autres

Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome type I is a rare, X-linked disorder resulting from pathogenic variants in MBTPS2. Here we report a Pakistani IFAP pedigree of three affected individuals harboring the recurrent MBTPS2 splice-site variant c.970+5G>A that was reported previously …

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Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum?

Laura Elena Valinotto, Mónica Inés Natale, Silvina Beatriz Lusso, Luz Velazquez Perdomo et autres

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) or with migratory circinate erythema (EBS-MCE) are rare clinical subtypes, typically associated with KRT5 pathogenic variants. A clinical and molecular analysis was conducted on 49 patients from 21 unrelated families in Argentina with suspected EBS-MP …

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Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation

Emily Mira Warshauer, Paul Maier, Göran Runfeldt, Ignacia Fuentes et autres

BACKGROUND: c.6527insC mutation is curiously prevalent among individuals with RDEB and is found worldwide in Europe and the Americas. Previous research has suggested the possibility of a Sephardic Jewish origin of the mutation; however, individuals with RDEB are not known to have …

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Clinical and genetic characteristics of CARD14‐associated papulosquamous eruption in a paediatric case

María Marta Buján, Graciela Beatriz Manzur, Mónica Inés Natale, Laura Elena Valinotto et autres

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The Lambda Variant in Argentina: Analyzing the Evolution and Spread of SARS-CoV-2 Lineage C.37

Mercedes Soledad Nabaes Jodar, Carolina Torres, Laura Noelia Mojsiejczuk, Dolores Acuña et autres

The second wave of COVID-19 occurred in South America in early 2021 and was mainly driven by Gamma and Lambda variants. In this study, we aimed to describe the emergence and local genomic diversity of the SARS-CoV-2 Lambda variant in Argentina, from …

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Assessing the hidden diversity underlying consensus sequences of SARS-CoV-2 using VICOS, a novel bioinformatic pipeline for identification of mixed viral populations.

Stephanie Goya, Ezequiel Jorge Sosa, Mercedes Nabaes Jodar, Carolina Torres et autres

INTRODUCTION: Coinfection with two SARS-CoV-2 viruses is still a very understudied phenomenon. Although next generation sequencing methods are very sensitive to detect heterogeneous viral populations in a sample, there is no standardized method for their characterization, so their clinical and epidemiological importance …

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ESDR304 - Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation

Emily Mira Warshauer, Paul Maier, Ignacia Fuentes, Göran Runfeldt et autres

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation

Mónica Inés Natale, Graciela Beatriz Manzur, Silvina Beatriz Lusso, Eliana Cella et autres

Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous heritable skin disorder, characterized by blistering of the skin and mucous membranes following minor trauma. Dominant (DDEB) and recessive (RDEB) forms are caused by pathogenic variants in COL7A1 gene. Argentina's population has a heterogeneous …

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Eritroqueratodermia variable y progresiva: comunicación de una serie de casos con variantes en dos genes

Sabrina Martín, Daniela Espósito, Graciela Beatriz Manzur, Laura Elena Valinotto et autres

La eritroqueratodermia variable y progresiva es una genodermatosis que, en la mayoría de los casos, se hereda de forma autosómica dominante y presenta una expresividad variable. Es producida principalmente por variantes patogénicas en los genes GJB3, GJB4 y GJA1. Estos genes codifican …

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Cost-Effective Method to Perform SARS-CoV-2 Variant Surveillance: Detection of Alpha, Gamma, Lambda, Delta, Epsilon, and Zeta in Argentina

Carolina Torres, Laura Noelia Mojsiejczuk, Dolores Acuña, Sofía Alexay et autres

SARS-CoV-2 variants with concerning characteristics have emerged since the end of 2020. Surveillance of SARS-CoV-2 variants was performed on a total of 4,851 samples from the capital city and 10 provinces of Argentina, during 51 epidemiological weeks (EWs) that covered the end …

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Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum

Inés Irurzun, Mónica Inés Natale, María L. Agostinelli, Magdalena Lamberti et autres

Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). Clinical presentation includes ichthyosis follicularis, alopecia, photophobia and developmental delay. Hereditary mucoepithelial dysplasia (HMD) …

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A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina

Laura Elena Valinotto, Mónica Inés Natale, Silvina Beatriz Lusso, Eliana Cella et autres

BACKGROUND: Kindler syndrome is a rare genodermatosis. Major clinical criteria include acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. METHODS: FERMT1 gene was sequenced in 5 patients with a clinical diagnosis of Kindler syndrome. RESULTS: …

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