Abstract
Approximately 30% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in such cases. We sequenced these genes in a preselected cohort of 134 individuals with regressive autism. In total, 16 variants in 12 genes with evidence supportive of pathogenicity were identified. They were classified as variants of uncertain significance based on ACMG standards and guidelines. Among these were recurring variants in GRIN2A and PLXNB2, variants in genes that were linked to syndromic forms of ASD (GRIN2A, MECP2, CDKL5, SCN1A, PCDH19, UBE3A, and SLC9A6), and variants in the form of oligogenic heterozygosity (EHMT1, SLC9A6, and MFSD8).
Highlights
About thirty percent of individuals with autism spectrum disorder (ASD) experience developmental regression [1].These individuals commonly manifest cognitive decline, loss of language skills, seizures, and difficulty in managing behavior [1]
Given a lack of appreciation for the genetic landscape of regressive autism, we conducted a complete literature search for genes that were reported in the comorbidity of developmental regression with or without autism prior to August 2015, which formed a list of 47 genes
Using a preselected cohort of 134 individuals who had a diagnosis of autism and developmental regression, we assessed the likelihood of identifying variants in these 47 genes
Summary
About thirty percent of individuals with ASD experience developmental regression [1]. These individuals commonly manifest cognitive decline, loss of language skills, seizures, and difficulty in managing behavior [1]. Symptoms can manifest as early as infancy or early childhood. ASD and developmental regression are involved in a few neurological conditions with known etiologies, such as. Landau–Kleffner syndrome, or Christianson syndrome [1,2]. Genetic variants in isolated cases of autism and developmental regression have been reported. An R426H homozygous variant in the ADSL gene was identified in three affected individuals of the same family [3]. A translocation t (14;21)(q21.1; p11.2), disrupting the expression of LRFN5, was
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
