Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
| Autor: | 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 |
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| Přispěvatelé: | 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, Merla, G |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
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 |
| Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, Vol 19, Iss 1, p 82 (2017) |
| ISSN: | 1422-0067 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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