Mutation Spectrum of MLL2 in Kabuki Syndrome Patients
Author Information
Author(s): Micale Lucia, Augello Bartolomeo, Fusco Carmela, Selicorni Angelo, Loviglio Maria N, Silengo Margherita Cirillo, Reymond Alexandre, Gumiero Barbara, Zucchetti Federica, D'Addetta Ester V, Belligni Elga, Calcagnì Alessia, Digilio Maria C, Dallapiccola Bruno, Faravelli Francesca, Forzano Francesca, Accadia Maria, Bonfante Aldo, Clementi Maurizio, Daolio Cecilia, Douzgou Sofia, Ferrari Paola, Fischetto Rita, Garavelli Livia, Lapi Elisabetta, Mattina Teresa, Melis Daniela, Patricelli Maria G, Priolo Manuela, Prontera Paolo, Renieri Alessandra, Mencarelli Maria A, Scarano Gioacchino, Monica Matteo della, Toschi Benedetta, Turolla Licia, Vancini Alessandra, Zatterale Adriana, Gabrielli Orazio, Zelante Leopoldo, Merla Giuseppe
Primary Institution: IRCCS Casa Sollievo della Sofferenza Hospital
Hypothesis
What is the mutation spectrum of the MLL2 gene in patients diagnosed with Kabuki syndrome?
Conclusion
The study identifies a large spectrum of MLL2 mutations in Kabuki syndrome patients, which may enhance understanding of the disease and improve clinical management.
Supporting Evidence
- 45 out of 62 patients had MLL2 nucleotide variants.
- 38 of the 42 variants identified were novel.
- 70% of the mutations were nonsense or frameshift mutations.
Takeaway
Researchers looked at the genes of kids with Kabuki syndrome and found many new mutations that could help doctors understand and treat the condition better.
Methodology
Genomic DNAs were extracted from 62 patients, and Sanger sequencing was performed to analyze the MLL2 gene.
Limitations
27% of patients showed no detectable mutations, which may be due to genetic heterogeneity or misdiagnosis.
Participant Demographics
{"gender_distribution":{"male":36,"female":26},"age":null}
Digital Object Identifier (DOI)
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