Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
oleh: Nicolas J. Abreu, Amy E. Siemon, Adriane L. Baylis, Richard E. Kirschner, Ruthann B. Pfau, Mai‐Lan Ho, Scott E. Hickey, Kristen V. Truxal
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2022-02-01 |
Deskripsi
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.