13 results on '"Meossi, Camilla"'
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2. The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients
- Author
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Prada, Elisabetta, Meossi, Camilla, Marafon, Denise Piras, Grilli, Federico, Scuvera, Giulietta, Marchisio, Paola Giovanna, Agostoni, Carlo Virginio, Natacci, Federica, and Milani, Donatella
- Published
- 2024
- Full Text
- View/download PDF
3. Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.
- Author
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Meossi, Camilla, Carrer, Alessia, Ciaccio, Claudia, Pezzoli, Laura, Pezzani, Lidia, Silipigni, Rosa Maria, Sciacca, Francesca L., Tenconi, Romano, Esposito, Silvia, De Laurentiis, Arianna, Pantaleoni, Chiara, Marchisio, Paola, Natacci, Federica, D'Arrigo, Stefano, Iascone, Maria, and Milani, Donatella
- Abstract
Background/Objectives: The pathogenetic role of 15q11.2 Copy Number Variations (CNVs) remains contentious in the scientific community, as microdeletions and microduplications in this region are linked to neurodevelopmental disorders with variable expressivity. This study aims to explore the diagnostic utility of Exome Sequencing (ES) in a cohort of pediatric patients with 15q11.2 CNVs. Methods: We enrolled 35 probands with 15q11.2 microdeletions or microduplications from two genetic centers between January 2021 and January 2023. Chromosomal Microarray Analysis (CMA) and ES were performed with written consent obtained from all parents. Pathogenic variants were classified according to ACMG guidelines. Results: CMA identified additional pathogenic CNVs in 3 of 35 children (9%). Subsequent ES revealed likely pathogenic or pathogenic variants in 11 of 32 children (34%). Notably, a higher percentage of isolated autism spectrum disorder (ASD) diagnoses was observed in patients without other CNVs or point mutations (p = 0.019). Conclusions: The ES analysis provided a diagnostic yield of 34% in this pediatric cohort with 15q11.2 CNVs. While the study does not dismiss the contribution of the CNV to the clinical phenotype, the findings suggest that ES may uncover the underlying causes of neurodevelopmental disorders. Continuous monitoring and further genetic testing are recommended for all 15q11.2 CNV carriers to optimize clinical management and familial counseling. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature
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Privitera, Flavia, primary, Pagano, Stefano, additional, Meossi, Camilla, additional, Battini, Roberta, additional, Bartolini, Emanuele, additional, Montanaro, Domenico, additional, and Santorelli, Filippo Maria, additional
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- 2024
- Full Text
- View/download PDF
5. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
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Lacombe, Didier, primary, Bloch-Zupan, Agnès, additional, Bredrup, Cecilie, additional, Cooper, Edward B, additional, Houge, Sofia Douzgou, additional, García-Miñaúr, Sixto, additional, Kayserili, Hülya, additional, Larizza, Lidia, additional, Lopez Gonzalez, Vanesa, additional, Menke, Leonie A, additional, Milani, Donatella, additional, Saettini, Francesco, additional, Stevens, Cathy A, additional, Tooke, Lloyd, additional, Van der Zee, Jill A, additional, Van Genderen, Maria M, additional, Van-Gils, Julien, additional, Waite, Jane, additional, Adrien, Jean-Louis, additional, Bartsch, Oliver, additional, Bitoun, Pierre, additional, Bouts, Antonia H M, additional, Cueto-González, Anna M, additional, Dominguez-Garrido, Elena, additional, Duijkers, Floor A, additional, Fergelot, Patricia, additional, Halstead, Elizabeth, additional, Huisman, Sylvia A, additional, Meossi, Camilla, additional, Mullins, Jo, additional, Nikkel, Sarah M, additional, Oliver, Chris, additional, Prada, Elisabetta, additional, Rei, Alessandra, additional, Riddle, Ilka, additional, Rodriguez-Fonseca, Cristina, additional, Rodríguez Pena, Rebecca, additional, Russell, Janet, additional, Saba, Alicia, additional, Santos-Simarro, Fernando, additional, Simpson, Brittany N, additional, Smith, David F, additional, Stevens, Markus F, additional, Szakszon, Katalin, additional, Taupiac, Emmanuelle, additional, Totaro, Nadia, additional, Valenzuena Palafoll, Irene, additional, Van Der Kaay, Daniëlle C M, additional, Van Wijk, Michiel P, additional, Vyshka, Klea, additional, Wiley, Susan, additional, and Hennekam, Raoul C, additional
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- 2024
- Full Text
- View/download PDF
6. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
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MS Oogheelkunde, Child Health, Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C., MS Oogheelkunde, Child Health, Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, and Hennekam, Raoul C.
- Published
- 2024
7. Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement
- Author
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Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C., Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, and Hennekam, Raoul C.
- Abstract
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.
- Published
- 2024
8. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
- Author
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Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H. M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elisabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C. M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C., Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H. M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elisabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C. M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, and Hennekam, Raoul C.
- Abstract
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.
- Published
- 2024
9. Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study
- Author
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Rosina, Erica, primary, Pezzani, Lidia, additional, Apuril, Erika, additional, Pezzoli, Laura, additional, Marchetti, Daniela, additional, Bellini, Matteo, additional, Lucca, Camilla, additional, Meossi, Camilla, additional, Massimello, Marta, additional, Mariani, Milena, additional, Scatigno, Agnese, additional, Cattaneo, Elisa, additional, Colombo, Lorenzo, additional, Maitz, Silvia, additional, Cereda, Anna, additional, Milani, Donatella, additional, Spaccini, Luigina, additional, Bedeschi, Maria Francesca, additional, Selicorni, Angelo, additional, and Iascone, Maria, additional
- Published
- 2023
- Full Text
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10. CATSHL syndrome, a new family and phenotypic expansion.
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Cannova, Silvia, Meossi, Camilla, Grilli, Federico, Milani, Donatella, Alberti, Federica, Cesaretti, Claudia, Marchisio, Paola Giovanna, Crosti, Francesca, and Pezzani, Lidia
- Abstract
We report the case of a 12‐year‐old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile‐onset hearing loss. The CATSHL (CAmptodactyly – Tall stature – Scoliosis – Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg‐shaped incisors were observed in the proband, a feature never reported in CATSHL but typical of another FGFR3‐related condition, LADD (Lacrimo – Auricolo – Dento – Digital) syndrome. The FGFR3 p.Arg621Cys variant seems to be a newly identified cause of CATSHL syndrome with some phenotypic overlap with the LADD syndrome. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
11. CATSHL syndrome, a new family and phenotypic expansion
- Author
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Cannova, Silvia, primary, Meossi, Camilla, additional, Grilli, Federico, additional, Milani, Donatella, additional, Alberti, Federica, additional, Cesaretti, Claudia, additional, Marchisio, Paola Giovanna, additional, Crosti, Francesca, additional, and Pezzani, Lidia, additional
- Published
- 2023
- Full Text
- View/download PDF
12. Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
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Rosina, Erica, Pezzani, Lidia, Apuril, Erika, Pezzoli, Laura, Marchetti, Daniela, Bellini, Matteo, Lucca, Camilla, Meossi, Camilla, Massimello, Marta, Mariani, Milena, Scatigno, Agnese, Cattaneo, Elisa, Colombo, Lorenzo, Maitz, Silvia, Cereda, Anna, Milani, Donatella, Spaccini, Luigina, Bedeschi, Maria Francesca, Selicorni, Angelo, and Iascone, Maria
- Subjects
GENETIC testing ,LONGITUDINAL method ,PEDIATRICS ,DIAGNOSIS ,GENOMICS ,DNA copy number variations - Abstract
Background: The recent guidelines suggest the use of genome‐wide analyses, such as whole exome sequencing (WES), at the beginning of the diagnostic approach for cases with suspected genetic conditions. However, in many realities it still provides for the execution of a multi‐step pathway, thus requiring several genetic tests to end the so‐called 'diagnostic odyssey'. Methods: We reported the results of GENE Project (Genomic analysis Evaluation NEtwork): a multicentre prospective cohort study on 125 paediatric outpatients with a suspected genetic disease in which we performed first‐tier trio‐WES, including exome‐based copy number variation analysis, in parallel to a 'traditional approach' of two/three sequential genetic tests. Results: First‐tier trio‐WES detected a conclusive diagnosis in 41.6% of patients, way above what was found with routine genetic testing (25%), with a time‐to‐result of about 50 days. Notably, the study showed that 44% of WES‐reached diagnoses would be missed with the traditional approach. The diagnostic rate (DR) of the two approaches varied in relation to the phenotypic class of referral and to the proportion of cases with a defined diagnostic suspect, proving the major difference for neurodevelopmental disorders. Moreover, trio‐WES analysis detected variants in candidate genes of unknown significance (EPHA4, DTNA, SYNCRIP, NCOR1, TFDP1, SPRED3, EDA2R, PHF12, PPP1R12A, WDR91, CDC42BPG, CSNK1D, EIF3H, TMEM63B, RIPPLY3) in 19.4% of undiagnosed cases. Conclusion: Our findings represent real‐practice evidence of how first‐tier genome‐wide sequencing tests significantly improve the DR for paediatric outpatients with a suspected underlying genetic aetiology, thereby allowing a time‐saving setting of the correct management, follow‐up and family planning. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
13. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings
- Author
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Ronzoni, Luisa, primary, Boito, Simona, additional, Meossi, Camilla, additional, Cesaretti, Claudia, additional, Rinaldi, Berardo, additional, Agolini, Emanuele, additional, Rizzuti, Tommaso, additional, Pezzoli, Laura, additional, Silipigni, Rosamaria, additional, Novelli, Antonio, additional, Iascone, Maria, additional, Persico, Nicola, additional, and Natacci, Federica, additional
- Published
- 2022
- Full Text
- View/download PDF
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