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Autism Spectrum Disorder

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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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Attention-Deficit/Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
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Oppositional Defiant Disorder

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Related Experiment Video

Updated: Dec 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

SETD1B-associated neurodevelopmental disorder.

Alexandra Roston¹, Dan Evans², Harinder Gill^3,4

¹Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada alexandra.roston@phsa.ca.

Journal of Medical Genetics

|June 18, 2020

Summary

This summary is machine-generated.

Rare variants in the SETD1B gene are linked to a neurodevelopmental syndrome featuring intellectual disability, seizures, and language delays. This finding may also indicate a risk for epilepsy and autism spectrum disorder.

Keywords:

clinical genetics epilepsy and seizures genetics molecular genetics

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Area of Science:

Genetics
Neuroscience
Epigenetics

Background:

Histone methyltransferases and chromatin modifiers are implicated in neurodevelopmental disorders and cancers.
SETD1B encodes a lysine-specific methyltransferase crucial for transcriptional activation via H3K4 methylation.
Previous reports link rare SETD1B variants to seizures, global developmental delay, and intellectual disability.

Purpose of the Study:

To report clinical findings in four patients with rare coding variants in SETD1B.
To characterize the shared phenotype associated with SETD1B variants.
To investigate the role of SETD1B in neurodevelopmental disorders.

Main Methods:

Clinical data collection from four patients with rare SETD1B coding variants.
Genome-wide and exome-wide testing, including microarray and trio exome sequencing.
Next-generation sequencing analysis in a cohort of pediatric epilepsy patients.

Main Results:

Four patients presented with a shared phenotype including intellectual disability, language delay, specific musculoskeletal findings, and seizures.
Seizures in these patients were potentially treatment-refractory.
Supporting evidence was found in a cohort of pediatric epilepsy patients.

Conclusions:

Rare coding variants in SETD1B can lead to a diagnosable syndrome.
SETD1B variants may be a risk factor for epilepsy, autism, and other neurodevelopmental phenotypes.
Longitudinal studies are needed to understand SETD1B's role in neurodevelopmental and other complex diseases.