Open AccessNovel 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.