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

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.

SUBMITTER: Abreu NJ

PROVIDER: S-EPMC8832165 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature

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

Abreu Nicolas J NJ Siemon Amy E AE Baylis Adriane L AL Kirschner Richard E RE Pfau Ruthann B RB Ho Mai-Lan ML Hickey Scott E SE Truxal Kristen V KV

Clinical case reports 20220211 2

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. ...[more]

PMID: 35169466

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