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Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
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 m...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796032/ https://www.ncbi.nlm.nih.gov/pubmed/29283410 http://dx.doi.org/10.3390/ijms19010082 |
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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 Merla, Giuseppe |
author_facet | 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 Merla, Giuseppe |
author_sort | Lepri, Francesca Romana |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5796032 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-57960322018-02-09 Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature 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 Merla, Giuseppe Int J Mol Sci Case Report 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. MDPI 2017-12-28 /pmc/articles/PMC5796032/ /pubmed/29283410 http://dx.doi.org/10.3390/ijms19010082 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report 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 Merla, Giuseppe Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature |
title | Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature |
title_full | Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature |
title_fullStr | Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature |
title_full_unstemmed | Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature |
title_short | Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature |
title_sort | clinical and neurobehavioral features of three novel kabuki syndrome patients with mosaic kmt2d mutations and a review of literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796032/ https://www.ncbi.nlm.nih.gov/pubmed/29283410 http://dx.doi.org/10.3390/ijms19010082 |
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