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Autism Spectrum Disorder

Autism Spectrum Disorder

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.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

Sex Linked Disorders

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Meiosis I

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...

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Related Experiment Video

Updated: Jun 27, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

A 15q13.3 microdeletion segregating with autism.

Alistair T Pagnamenta¹, Kirsty Wing, Elham Sadighi Akha

¹The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

European Journal of Human Genetics : EJHG

|December 4, 2008

Summary

A rare 15q13.3 microdeletion, a genetic cause for autism, is linked to varied neurodevelopmental disorders. This finding highlights the complex genetic landscape of autism spectrum disorder and related conditions.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Area of Science:

Genetics
Neurodevelopmental disorders
Genomic imprinting

Background:

Autism and mental retardation (MR) frequently co-occur, suggesting shared genetic underpinnings.
The Prader-Willi/Angelman syndrome imprinting center is a known region for genetic disorders.
Chromosomal abnormalities are increasingly recognized as contributors to neurodevelopmental conditions.

Observation:

A specific 2 Mb microdeletion at chromosome 15q13.3 was identified in a family with multiple autism cases.
This microdeletion is located near the Prader-Willi/Angelman syndrome critical region.
Previous research linked this genomic region to intellectual disability and epilepsy.

Findings:

The 15q13.3 microdeletion is associated with a spectrum of neurodevelopmental phenotypes, including autism.
This copy number variation (CNV) demonstrates significant phenotypic variability across individuals.
The study implicates this CNV as a potential risk factor for autism and other neurological conditions.

Implications:

Further research is needed to fully define the phenotypic spectrum associated with the 15q13.3 CNV.
Identifying genetic or environmental modifiers may elucidate the variable expressivity of this microdeletion.
Understanding this CNV's role can improve genetic counseling and diagnostic approaches for autism and related disorders.