Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Feb 11;10(2):e05277.
doi: 10.1002/ccr3.5277. eCollection 2022 Feb.

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

Nicolas J Abreu  1   2 , Amy E Siemon  3 , Adriane L Baylis  4   5   6   7 , Richard E Kirschner  4   5   6 , Ruthann B Pfau  5   8   9 , Mai-Lan Ho  10   11 , Scott E Hickey  3   5 , Kristen V Truxal  3   5
Affiliations
Case Reports

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

Nicolas J Abreu et al. Clin Case Rep. .

Abstract

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.

Keywords: KMT2E; cerebellar hypoplasia; neurodevelopmental disorder; velopharyngeal dysfunction.

PubMed Disclaimer

Conflict of interest statement

None of the authors has a relevant conflict of interest.

Figures

FIGURE 1
FIGURE 1
(A) Frontal and (B) profile photographs of the proband at 15 years of age demonstrating long, straight eyebrows with deep‐set eyes, broad nose with prominent tip, ears with outward deviation of upper helices, mildly smooth philtrum, and thin upper lip. Brain MRI was performed under general anesthesia at 12 years of age in which (C) axial T2 FLAIR sequence shows patchy posterior‐predominant white matter hyperintensities and (D) sagittal MPRAGE sequence highlights reduced cerebellar volume
See this image and copyright information in PMC

References

    1. O’Donnell‐Luria AH, Pais LS, Faundes V, et al. Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy. Am J Hum Genet. 2019;104(6):1210‐1222. doi:10.1016/j.ajhg.2019.03.021 - DOI - PMC - PubMed
    1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405‐424. doi:10.1038/gim.2015.30 - DOI - PMC - PubMed
    1. Conforti R, Iovine S, Santangelo G, et al. ODLURO syndrome: personal experience and review of the literature. Radiol Med. 2021;126(2):316‐322. doi:10.1007/s11547-020-01255-2 - DOI - PubMed
    1. Sharawat IK, Panda PK, Dawman L. Clinical characteristics and genotype‐phenotype correlation in children with KMT2E gene‐related neurodevelopmental disorders: report of two new cases and review of published literature. Neuropediatrics. 2021;52(2):98‐104. doi:10.1055/s-0040-1715629 - DOI - PubMed
    1. Li Y, Fan L, Luo R, et al. Case report: de novo variants of KMT2E cause O’Donnell‐Luria‐Rodan syndrome: additional cases and literature review. Front Pediatr. 2021;9:641841. doi:10.3389/fped.2021.641841 - DOI - PMC - PubMed

Publication types

LinkOut - more resources