Relevance to Autism

De novo missense variants in the LAS1L gene have been identified in probands presenting with intellectual disability or developmental delay (Lelieveld et al., 2016; Deciphering Developmental Disorder Study 2017), while a maternally-inherited in-frame deletion variant in this gene was identified in a male ASD proband from a cohort of 100 Vietnamese children with ASD (Tran et al., 2020). Hemizygous mutations in LAS1L are also responsible for Wilson-Turner syndrome (OMIM 309585), an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity (Hu et al., 2016).

Molecular Function

Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA. Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes.

External Links

References