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3 results on '"KMT2D/MLL2"'

1. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Author

Lepri, Francesca Romana, Cocciadiferro, Dario, Augello, Bartolomeo, Alfieri, Paolo, Pes, Valentina, Vancini, Alessandra, Caciolo, Cristina, Squeo, Gabriella Maria, Malerba, Natascia, Adipietro, Iolanda, Novelli, Antonio, Sotgiu, Stefano, Gherardi, Renzo, Digilio, Maria Cristina, Dallapiccola, Bruno, and Merla, Giuseppe

Subjects
*KABUKI syndrome, *MULTIPLE human abnormalities, *MOSAICISM, *CHROMATIN, *GENETIC mutation, *NUCLEOTIDES, *LYMPHOCYTES
Abstract

Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX, two interacting chromatin modifier responsible respectively for 56-75% and 5-8% of the cases. To date, three KS patients with mosaic KMT2D deletions in blood lymphocytes have been described. We report on three additional subjects displaying KMT2D gene mosaics including one in which a single nucleotide change results in a new frameshift mutation (p.L1199HfsX7), and two with already-known nonsense mutations (p.R4484X and p.R5021X). Consistent with previously published cases, mosaic KMT2D mutations may result in mild KS facial dysmorphisms and clinical and neurobehavioral features, suggesting that these characteristics could represent the handles for genetic testing of individuals with slight KS-like traits. [ABSTRACT FROM AUTHOR]

Published
2018
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2. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

Author

Dario Cocciadiferro, Natascia Malerba, Alessandra Vancini, Bartolomeo Augello, Giuseppe Merla, Francesca Romana Lepri, Valentina Pes, Bruno Dallapiccola, Antonio Novelli, Paolo Alfieri, Stefano Sotgiu, Renzo Gherardi, Cristina Caciolo, Iolanda Adipietro, Maria Cristina Digilio, Gabriella Maria Squeo, Lepri, Fr, Cocciadiferro, D, Augello, B, Alfieri, P, Pes, V, Vancini, A, Caciolo, C, Squeo, Gm, Malerba, N, Adipietro, I, Novelli, A, Sotgiu, S, Gherardi, R, Digilio, Mc, Dallapiccola, B, and Merla, G

Subjects
0301 basic medicine, KMT2D gene, Nonsense mutation, Case Report, KMT2D/MLL2, Biology, Catalysis, Frameshift mutation, Inorganic Chemistry, lcsh:Chemistry, 03 medical and health sciences, Intellectual disability, medicine, Physical and Theoretical Chemistry, Molecular Biology, lcsh:QH301-705.5, Spectroscopy, Genetic testing, Genetics, medicine.diagnostic_test, Organic Chemistry, Chromatin modifier, General Medicine, medicine.disease, Computer Science Applications, developmental delay, kabuki syndrome, 030104 developmental biology, mosaicism, lcsh:Biology (General), lcsh:QD1-999, Kabuki syndrome
Abstract

Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX, two interacting chromatin modifier responsible respectively for 56–75% and 5–8% of the cases. To date, three KS patients with mosaic KMT2D deletions in blood lymphocytes have been described. We report on three additional subjects displaying KMT2D gene mosaics including one in which a single nucleotide change results in a new frameshift mutation (p.L1199HfsX7), and two with already-known nonsense mutations (p.R4484X and p.R5021X). Consistent with previously published cases, mosaic KMT2D mutations may result in mild KS facial dysmorphisms and clinical and neurobehavioral features, suggesting that these characteristics could represent the handles for genetic testing of individuals with slight KS-like traits.

Published
2017

3. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Author

Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, and Merla G

Subjects
Abnormalities, Multiple diagnosis, Abnormalities, Multiple metabolism, Abnormalities, Multiple physiopathology, Adolescent, Base Sequence, Child, DNA-Binding Proteins metabolism, Face physiopathology, Female, Gene Expression, Hematologic Diseases diagnosis, Hematologic Diseases metabolism, Hematologic Diseases physiopathology, Humans, Neoplasm Proteins metabolism, Neuropsychological Tests, Vestibular Diseases diagnosis, Vestibular Diseases metabolism, Vestibular Diseases physiopathology, Abnormalities, Multiple genetics, Codon, Nonsense, DNA-Binding Proteins genetics, Face abnormalities, Frameshift Mutation, Hematologic Diseases genetics, Mosaicism, Neoplasm Proteins genetics, Vestibular Diseases genetics
Abstract

Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX , two interacting chromatin modifier responsible respectively for 56-75% and 5-8% of the cases. To date, three KS patients with mosaic KMT2D deletions in blood lymphocytes have been described. We report on three additional subjects displaying KMT2D gene mosaics including one in which a single nucleotide change results in a new frameshift mutation (p.L1199HfsX7), and two with already-known nonsense mutations (p.R4484X and p.R5021X). Consistent with previously published cases, mosaic KMT2D mutations may result in mild KS facial dysmorphisms and clinical and neurobehavioral features, suggesting that these characteristics could represent the handles for genetic testing of individuals with slight KS-like traits., Competing Interests: The authors declare no conflict of interest.

Published
2017
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