An analysis of 2,377 families from the Simons Simplex Collection revealed statistically significant over-transmission of private likely gene-disruptive variants in the LZTR1 gene to ASD probands (6 inherited CNVs/SNVs in probands compared to none in unaffected siblings; inherited p-value=0.03) (Krumm et al., 2015).
Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the protein encoded by the LZTR1 gene subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. Mutations in the LZTR1 gene are responsible for autosomal-dominant and autosomal-recessive forms of Noonan syndrome (Yamamoto et al., 2015; Johnston et al., 2018; Pagnamenta et al., 2019).
Type of Disorder
Excess of rare, inherited truncating mutations in autism.