Genetic Changes We Study

The Simons VIP team is studying both copy number variants (CNVs) and changes in one gene (or a "single" gene) that have been associated with features of autism spectrum disorder (ASD) and developmental delay. The variety of genetic changes are also called "variants"; we may use these words interchangably.

The list of genetic variants we are studying, along with additional information and resources, is below.


Copy Number Variants:
16p11.2 Deletions 16p11.2 Duplications
1q21.1 Deletions 1q21.1 Duplications

 

 

 

Genes Associated with Features of Autism:
CHAMP1 DYRK1A KMT2C REST
CHD2 FOXP1 KMT2E SCN2A
AHDC1 CHD8 GRIN2A MBD5 SETD5
ANK2 CSNK2A1 GRIN2B MED13L KMT2EKMKMT
ANKRD11 CTBP1 HIVEP2 PBRM1 SMARCC2
ARID1B CTNNB1 HNRNPH2 POGZ STXBP1
ASH1L CUL3 KAT6A PPP2R5D SUV420H1
ASXL3 DDX3X KATNAL2 PTCHD1 SYNGAP1
BAF190 DSCAM KDM5B PTEN  TBR1
BCL11A DST KDM6B PURA  

 

Why did we pick these genes?

Researchers knew very little about the 16p11.2 and 1q21.1 genetic changes and their association with autism spectrum disorder (ASD) and developmental problems when this study first began. We’ve been able to expand that body of knowledge enormously because families have participated in our study and have shared their experiences and health information.

We are committed to learning as much as we can about the genetics of developmental delay and features of autism because we know that families have faced many questions along the road of learning about their child’s genetic diagnosis. We know there isn’t always reliable information available for families regarding genetic changes identified through whole genome or exome sequencing and microarray testing in children who have developmental delay or features of autism.

With your help, we hope to have more information that can be provided to families who have received a diagnosis of a change in these genes in the future. How did these genetic changes make the list? This expansion of Simons VIP includes genetic changes that have been more recently identified in children who have some features of autism, unexplained behavioral differences, developmental problems, or a definitive diagnosis of autism. Some genetic changes have been seen many times and we may have more information to provide. Other genetic changes have only been seen a couple of times, and we may not know very much at all.

If your child has a change in one of the new genes we’ve added, it’s likely that he or she has some differences in the way they interact with others, communicate, and/or in their behaviors. We know that children with these genetic changes may not have a diagnosis of autism, but most will have some of the features we describe in the section “What is Autism?” under “Learn about Genetics."