De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.
The autism susceptibility candidate 2 (AUTS2) gene is suggested to play a critical role in early brain development, and its association with intellectual disability (ID), autism spectrum disorders, and other neurodevelopmental disorders (NDDs) has recently gained more attention. Genomic rearrangements and copy number variations (CNVs) involving AUTS2 have been implicated in a range of NDDs with or without congenital malformations and dysmorphic features. Here we report a 62 kb de novo deletion encompassing exon 6 of AUTS2 detected by chromosomal microarray analysis (CMA) in a 4.5 year-old female patient with severe speech and language disorder, history of tonic-clonic movements, and pes planus with eversion of the feet. This is one of the smallest de novo intragenic deletions of AUTS2 described in patients with NDDs. We reviewed previously reported small pathogenic CNVs (<300 kb) in 19 cases, and correlated their specific locations within AUTS2 as well as presence of enhancers, regulatory elements, and CpG islands with the clinical findings of these cases and our patient. Our report provides additional insight into the clinical spectrum of AUTS2 disruptions.
Departments of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Ina E
IE
Amarillo
Wenhui Laura
WL
Li
Xinmin
X
Li
Eric
E
Vilain
Sibel
S
Kantarci
D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D002658:Developmental Disabilities / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007806:Language Disorders / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D013060:Speech; D014157:Transcription Factors
C554283:AUTS2 protein, human; D003598:Cytoskeletal Proteins; D011506:Proteins; D014157:Transcription Factors
7q11.22; AUTS2; autism susceptibility candidate 2; neurodevelopmental disorders