ATXN7L3 variants cause developmental delay, hypotonia and distinctive facial features
A new study published in Brain characterized heterozygous de novo variants in ATXN7L3, which encodes a subunit of the deubiquitinating enzyme (DUB) modules responsible for post-translational protein modification essential for numerous biological pathways. The variants were found among 9 unrelated individuals affected by a rare syndromic neurodevelopmental disorder with the following core phenotype: global motor and language developmental delay, hypotonia and distinctive facial characteristics (including hypertelorism, epicanthal folds, blepharoptosis, a small nose and mouth, and lowset, posteriorly rotated ears). Various analyses identified ATXN7L3 as an additional gene associated with DUB-related neurodevelopmental disorders.
- Brain. 2024 Aug 1;147(8):2732-2744