Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

KMT2E‐related neurodevelopmental disorder is a recently described intellectual disability syndrome often with speech difficulties. Here, we describe an individual with a heterozygous frameshift variant in KMT2E (NM_182931.2:c.2334_2337delTTAC, p.[Tyr779AlafsTer41]), intellectual disability, cerebell...

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Autores principales: Abreu, Nicolas J., Siemon, Amy E., Baylis, Adriane L., Kirschner, Richard E., Pfau, Ruthann B., Ho, Mai‐Lan, Hickey, Scott E., Truxal, Kristen V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8832165/
https://www.ncbi.nlm.nih.gov/pubmed/35169466
http://dx.doi.org/10.1002/ccr3.5277
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author Abreu, Nicolas J.
Siemon, Amy E.
Baylis, Adriane L.
Kirschner, Richard E.
Pfau, Ruthann B.
Ho, Mai‐Lan
Hickey, Scott E.
Truxal, Kristen V.
author_facet Abreu, Nicolas J.
Siemon, Amy E.
Baylis, Adriane L.
Kirschner, Richard E.
Pfau, Ruthann B.
Ho, Mai‐Lan
Hickey, Scott E.
Truxal, Kristen V.
author_sort Abreu, Nicolas J.
collection PubMed
description KMT2E‐related neurodevelopmental disorder is a recently described intellectual disability syndrome often with speech difficulties. Here, we describe an individual with a heterozygous frameshift variant in KMT2E (NM_182931.2:c.2334_2337delTTAC, p.[Tyr779AlafsTer41]), intellectual disability, cerebellar hypoplasia, and velopharyngeal dysfunction. This case suggests potential mechanisms of speech disturbance in the disorder, requiring further investigation.
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spelling pubmed-88321652022-02-14 Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction Abreu, Nicolas J. Siemon, Amy E. Baylis, Adriane L. Kirschner, Richard E. Pfau, Ruthann B. Ho, Mai‐Lan Hickey, Scott E. Truxal, Kristen V. Clin Case Rep Case Reports KMT2E‐related neurodevelopmental disorder is a recently described intellectual disability syndrome often with speech difficulties. Here, we describe an individual with a heterozygous frameshift variant in KMT2E (NM_182931.2:c.2334_2337delTTAC, p.[Tyr779AlafsTer41]), intellectual disability, cerebellar hypoplasia, and velopharyngeal dysfunction. This case suggests potential mechanisms of speech disturbance in the disorder, requiring further investigation. John Wiley and Sons Inc. 2022-02-11 /pmc/articles/PMC8832165/ /pubmed/35169466 http://dx.doi.org/10.1002/ccr3.5277 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Abreu, Nicolas J.
Siemon, Amy E.
Baylis, Adriane L.
Kirschner, Richard E.
Pfau, Ruthann B.
Ho, Mai‐Lan
Hickey, Scott E.
Truxal, Kristen V.
Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
title Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
title_full Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
title_fullStr Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
title_full_unstemmed Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
title_short Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
title_sort novel truncating variant in kmt2e associated with cerebellar hypoplasia and velopharyngeal dysfunction
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8832165/
https://www.ncbi.nlm.nih.gov/pubmed/35169466
http://dx.doi.org/10.1002/ccr3.5277
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