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

Abreu Nicolas J. | Zendy; Siemon Amy E. | Zendy; Baylis Adriane L. | Zendy; Kirschner Richard E. | Zendy; Pfau Ruthann B. | Zendy; Ho MaiLan | Zendy; Hickey Scott E. | Zendy; Truxal Kristen V. | Zendy

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

Author(s) -

Abreu Nicolas J.,

Siemon Amy E.,

Baylis Adriane L.,

Kirschner Richard E.,

Pfau Ruthann B.,

Ho MaiLan,

Hickey Scott E.,

Truxal Kristen V.

Publication year - 2022

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.5277

Subject(s) - medicine , intellectual disability , cerebellar hypoplasia (non human) , hypoplasia , frameshift mutation , dysarthria , audiology , pediatrics , cerebellum , genetics , psychiatry , mutation , biology , gene

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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