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Your search keyword '"Miano, Maria Giuseppina"' showing total 5 results
Start Over Author "Miano, Maria Giuseppina" Journal european journal of human genetics
5 results on '"Miano, Maria Giuseppina"'

1. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Author

Leonardi, Emanuela, Aspromonte, Maria Cristina, Drongitis, Denise, Bettella, Elisa, Verrillo, Lucia, Polli, Roberta, McEntagart, Meriel, Licchetta, Laura, Dilena, Robertino, D’Arrigo, Stefano, Ciaccio, Claudia, Esposito, Silvia, Leuzzi, Vincenzo, Torella, Annalaura, Baldo, Demetrio, Lonardo, Fortunato, Bonato, Giulia, Pellegrin, Serena, Stanzial, Franco, Posmyk, Renata, Kaczorowska, Ewa, Carecchio, Miryam, Gos, Monika, Rzońca-Niewczas, Sylwia, Miano, Maria Giuseppina, and Murgia, Alessandra

Published
2023
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2. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Author

Leonardi, Emanuela, primary, Aspromonte, Maria Cristina, additional, Drongitis, Denise, additional, Bettella, Elisa, additional, Verrillo, Lucia, additional, Polli, Roberta, additional, McEntagart, Meriel, additional, Licchetta, Laura, additional, Dilena, Robertino, additional, D’Arrigo, Stefano, additional, Ciaccio, Claudia, additional, Esposito, Silvia, additional, Leuzzi, Vincenzo, additional, Torella, Annalaura, additional, Baldo, Demetrio, additional, Lonardo, Fortunato, additional, Bonato, Giulia, additional, Pellegrin, Serena, additional, Stanzial, Franco, additional, Posmyk, Renata, additional, Kaczorowska, Ewa, additional, Carecchio, Miryam, additional, Gos, Monika, additional, Rzońca-Niewczas, Sylwia, additional, Miano, Maria Giuseppina, additional, and Murgia, Alessandra, additional

Published
2022
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3. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

Author

Miano, Maria Giuseppina, primary, Testa, Francesco, additional, Strazzullo, Maria, additional, Trujillo, Mariajose, additional, De Bernardo, Carmelilia, additional, Grammatico, Barbara, additional, Simonelli, Francesca, additional, Mangino, Massimo, additional, Torrente, Isabella, additional, Ruberto, Giulio, additional, Beneyto, Magdalena, additional, Antinolo, Guillermo, additional, Rinaldi, Ernesto, additional, Danesino, Cesare, additional, Ventruto, Valerio, additional, D'Urso, Michele, additional, Ayuso, Carmen, additional, Baiget, Monserrat, additional, and Ciccodicola, Alfredo, additional

Published
1999
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5. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Author

Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, Elisa Bettella, Lucia Verrillo, Roberta Polli, Meriel McEntagart, Laura Licchetta, Robertino Dilena, Stefano D’Arrigo, Claudia Ciaccio, Silvia Esposito, Vincenzo Leuzzi, Annalaura Torella, Demetrio Baldo, Fortunato Lonardo, Giulia Bonato, Serena Pellegrin, Franco Stanzial, Renata Posmyk, Ewa Kaczorowska, Miryam Carecchio, Monika Gos, Sylwia Rzońca-Niewczas, Maria Giuseppina Miano, Alessandra Murgia, Leonardi, Emanuela, Aspromonte, Maria Cristina, Drongitis, Denise, Bettella, Elisa, Verrillo, Lucia, Polli, Roberta, Mcentagart, Meriel, Licchetta, Laura, Dilena, Robertino, D'Arrigo, Stefano, Ciaccio, Claudia, Esposito, Silvia, Leuzzi, Vincenzo, Torella, Annalaura, Baldo, Demetrio, Lonardo, Fortunato, Bonato, Giulia, Pellegrin, Serena, Stanzial, Franco, Posmyk, Renata, Kaczorowska, Ewa, Carecchio, Miryam, Gos, Monika, Rzońca-Niewczas, Sylwia, Miano, Maria Giuseppina, and Murgia, Alessandra

Subjects
Genetics, Genetics (clinical)
Abstract

Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders (NDDs). The KDM5C gene, located in the Xp22 chromosomal region, encodes the H3K4me3-me2 eraser involved in neuronal plasticity and dendritic growth. Here we report 30 individuals carrying 13 novel and one previously identified KDM5C variants. Our cohort includes the first reported case of somatic mosaicism in a male carrying a KDM5C nucleotide substitution, and a dual molecular finding in a female carrying a homozygous truncating FUCA1 alteration together with a de novo KDM5C variant. With the use of next generation sequencing strategies, we detected 1 frameshift, 1 stop codon, 2 splice-site and 10 missense variants, which pathogenic role was carefully investigated by a thorough bioinformatic analysis. The pattern of X-chromosome inactivation was found to have an impact on KDM5C phenotypic expression in females of our cohort. The affected individuals of our case series manifested a neurodevelopmental condition characterized by psychomotor delay, intellectual disability with speech disorders, and behavioral features with particular disturbed sleep pattern; other observed clinical manifestations were short stature, obesity and hypertrichosis. Collectively, these findings expand the current knowledge about the pathogenic mechanisms leading to dysfunction of this important chromatin remodeling gene and contribute to a refinement of the KDM5C phenotypic spectrum.

Published
2022

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