Refining analyses of copy number variation identifies specific genes associated with developmental delay

Original research article by B.P. Coe et al. (2014).

Read the abstract here.

Using data available from large-scale clinical microarrays, Coe et al. identified copy number variants (CNVs) thought to be associated with developmental delay (DD) and/or autism (ASD) and intellectual disability (ID). With further analysis of these CNVs in nearly 7,000 affected and unaffected individuals, the authors were able to identify 26 candidate genes, or genes with enough evidence to link them to ASD, ID, or DD. One such candidate gene is SETBP1. Within this population, Coe et al. observed genetic changes, called “loss of function” mutations (mutations that stop or impair typical gene function) in SETPB1. The authors identified 13 individuals with a mutation in the SETBP1 gene. Most with varying degrees of ID/DD, delays in language skills, as well as other physical and behavioral differences (see table below). Research such as the study described in this article can be important to identifying new syndromes and genes in the future.

Features Observed in Individuals with SETBP1 Loss of Function Mutations

Clinical Feature Number of Individuals with Feature Percentage (%)
Intellectual Disability (ID)/Developmental Delay (DD) 11/13 85
Mild to Moderate ID 7/11 64
Severe ID 2/11 18
Profound ID 1/11 9
Global Delay 1/11 9
Speech Delay 13/13 100
Motor Delay 13/13 100
Differences in Facial Features 13/13 100
Hyperactivity/ADHD 6/13 46
Behavioral Differences 6/13 46
Difficulties with Social Settings/Situations 5/13 38
Seizures/Abnormal EEG 5/13 38