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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Detalles Bibliográficos
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
Descripción
Sumario: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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