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GENATLAS PHENOTYPE

last update : 16-03-2013

Symbol	AUTS2
Location	7q11.22
Name	autism spectrum disorder, 2
Other name(s)	autism, pervasive development disorder
Corresponding gene	AUTS2
Other symbol(s)	DRPLAIP1
Main clinical features	mental retardation with/without autism intellectual disability, developmental delay, dysmorphic features, autism , and skeletal abnormalities
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	psychiatry disorder
Type	susceptibility factor

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	breakpoint		translocations disrupting the AUTS2 gene in four unrelated individuals

Remark(s)

Genotype/Phenotype correlations

in-frame exonic deletions in the 5prime part of the gene (exons 1–5) showed a milder phenotype mainly restricted to neurocognitive defects with no or limited dysmorphology or were normal, but n contrast, deletions of the C-terminal part, encoded by both the short and full-length transcripts, cause a more severe phenotype including dysmorphology (PMID: 23332918))