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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos, Niels; Reilly, Jack; Elting, Mariet W; Campeau, Philippe M; Coman, David; Stark, Zornitza; Tan, Tiong Yang; Amor, David J; Kaur, Simran; StJohn, Miya; Morgan, Angela T; Kamien, Benjamin A; Patel, Chirag; Tedder, Matthew L; Merla, Giuseppe; Prontera, Paolo; Castori, Marco; Muru, Kai; Collins, Felicity; Christodoulou, John; Smith, Janine; Zeev, Bruria Ben; Murgia, Alessandra; Leonardi, Emanuela; Esber, Natacha; Martinez-Monseny, Antonio; Casas-Alba, Didac; Wallis, Matthew; Mannens, Marcel; Levy, Michael A; Relator, Raissa; Alders, Marielle; Sadikovic, Bekim.
Afiliação
  • Vos N; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
  • Reilly J; Department of Pathology & Laboratory Medicine, Western University, London, ON, N6A 5C1, Canada.
  • Elting MW; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
  • Campeau PM; Department of Pediatrics, Sainte-Justine UHC & University of Montreal, Montreal, QC, H3T 1C5, Canada.
  • Coman D; Department of Metabolic Medicine, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.
  • Stark Z; School of Medicine, University of Queensland, Brisbane, QLD 4072, Australia.
  • Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, 3052, Australia.
  • Amor DJ; Department of Paediatrics, University of Melbourne, Grattan Street, Parkville, Victoria, 3010, Australia.
  • Kaur S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, 3052, Australia.
  • StJohn M; Department of Paediatrics, University of Melbourne, Grattan Street, Parkville, Victoria, 3010, Australia.
  • Morgan AT; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.
  • Kamien BA; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia.
  • Patel C; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.
  • Tedder ML; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia.
  • Merla G; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.
  • Prontera P; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia.
  • Castori M; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.
  • Muru K; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia.
  • Collins F; Genetics Services of Western Australia, Perth, 6008, Western Australia.
  • Christodoulou J; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Herston, QLD 4006, Australia.
  • Smith J; Greenwood Genetic Center, Greenwood, SC 29646, United States.
  • Zeev BB; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo (Foggia), Italy.
  • Murgia A; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federica II, 5 - 80131, Naples, Italy.
  • Leonardi E; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Piazza dell'Università, 1, 06123, Perugia PG, Italy.
  • Esber N; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo (Foggia), Italy.
  • Martinez-Monseny A; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Riia 23b, 51010, Tartu, Estonia.
  • Casas-Alba D; Discipline of Child and Adolescent Health and Genomic Medicine, Sydney Medical School, Sydney University, Sydney, Camperdown NSW, 2050, Australia.
  • Wallis M; Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Randwick NSW, 2031, Australia.
  • Mannens M; Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Randwick NSW, 2031, Australia.
  • Levy MA; Sydney Children's Hospitals Network-Westmead, Randwick NSW, 2031, Australia.
  • Relator R; University of Sydney, Camperdown NSW, 2006, Australia.
  • Alders M; Sackler School of Medicine Tel Aviv University, Tel Aviv, 6997801, Israel.
  • Sadikovic B; Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy.
Epigenomics ; 15(6): 351-367, 2023 03.
Article em En | MEDLINE | ID: mdl-37249002
ABSTRACT
Accurate diagnosis for patients living with neurodevelopmental disorders is often met with numerous challenges, related to the ambiguity of findings and lack of specificity in genetic variants leading to pathology. Genome-wide DNA methylation analysis has been used to develop highly sensitive and specific 'episignatures' as biomarkers capable of differentiating and classifying complex neurodevelopmental disorders. In this study we describe distinct episignatures for KAT6A syndrome, caused by pathogenic variants in the lysine acetyltransferase A gene (KAT6A), and for the two neurodevelopmental disorders associated with lysine acetyl transferase B (KAT6B). We demonstrate the ability of our models to differentiate between highly overlapping episignatures, increasing the ability to effectively identify and diagnose these conditions.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Metilação de DNA / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Metilação de DNA / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article