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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

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic landscape of autism spectrum disorder in Vietnamese children
ASD
Support
Prevalence and architecture of de novo mutations in developmental disorders
DD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Wilson-Turner syndrome

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1185R001 
 inframe_deletion 
 c.1558_1566del 
 p.Trp520_Val522del 
 Familial 
 Maternal 
 Simplex 
 GEN1185R002 
 missense_variant 
 c.353C>T 
 p.Ala118Val 
 De novo 
 NA 
 Simplex 
 GEN1185R003 
 missense_variant 
 c.1244G>A 
 p.Arg415Gln 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 
X
Deletion-Duplication
 8
 
X
Duplication
 2
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion-Duplication
 10
 

No Animal Model Data Available

 

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