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

Autor: Abreu NJ; Center for Gene Therapy The Abigail Wexner Research Institute of Nationwide Children's Hospital Columbus Ohio USA.; Division of Neurology Nationwide Children's Hospital Columbus Ohio USA., Siemon AE; Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA., Baylis AL; Department of Plastic and Reconstructive Surgery Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.; Department of Plastic and Reconstructive Surgery The Ohio State University College of Medicine Columbus Ohio USA.; Department of Speech and Hearing Science The Ohio State University College of Arts and Sciences Columbus Ohio USA., Kirschner RE; Department of Plastic and Reconstructive Surgery Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.; Department of Plastic and Reconstructive Surgery The Ohio State University College of Medicine Columbus Ohio USA., Pfau RB; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute of Nationwide Children's Hospital Columbus Ohio USA.; Department of Pathology The Ohio State University College of Medicine Columbus Ohio USA., Ho ML; Department of Radiology Nationwide Children's Hospital Columbus Ohio USA.; Department of Radiology The Ohio State University College of Medicine Columbus Ohio USA., Hickey SE; Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA., Truxal KV; Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.; Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2022 Feb 11; Vol. 10 (2), pp. e05277. Date of Electronic Publication: 2022 Feb 11 (Print Publication: 2022).
DOI: 10.1002/ccr3.5277
Abstrakt: 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.
Competing Interests: None of the authors has a relevant conflict of interest.
(© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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