Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

doi:10.1038/s41598-026-44288-9

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Back to search

Article

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Scientific reports - 21 Mar 2026

Harripaul Ricardo, Rabia Ansa, Vasli Nasim, Mikhailov Anna, Rodrigues Ashlyn, Pastore Stephen F, Muhammad Tahir, Madanagopal Thulasi Thiruvallur, Hashmi Aisha Nasir, Tran Clinton, Stan Cassandra, Aw Katherine, Zai Clement C, Azam Maleeha, Mahmood Saqib, Heidari Abolfazl, Qamar Raheel, French Leon, Tripathy Shreejoy, Agha Zehra, Iqbal Muhammad, Ghadami Majid, Santangelo Susan L, Bozorgmehr Bita, Al Ayadhi Laila, Sasanfar Roksana, Maqbool Shazia, Hassan Arsalan, Knowles James A, Ayub Muhammad, Vincent John B

Abstract excerpt

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects about 1 in 54 children worldwide, imposing enormous economic and socioemotional burden on families and communities. Genetic studies of ASD have identified de novo copy number variants (CNVs) and point mutations that contribute significantly to the genetic architecture, but the majority of these studies were conducted in populations...

Topics

Child
Child, Preschool
Female
Humans
Male
Autism Spectrum Disorder
Consanguinity
DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exome Sequencing

Genes, Recessive

Genetic Association Studies

Genetic Predisposition to Disease

Homozygote

Iran

Pakistan

Polymorphism, Single Nucleotide

Saudi Arabia

Source

Open in PubMed Open full text

Identifiers

PMID: 41865132
DOI: 10.1038/s41598-026-44288-9
PMCID: PMC13168499

Genes

AR
DAGLA
ENPP6
FAXDC2
ILDR2
KSR2
PKD1L1
SCN10A
SHH
SLC36A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.PMID 41865132Read ↗

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genesSemantic proximity Read ↗

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.Semantic proximity Read ↗

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.Semantic proximity Read ↗

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.Semantic proximity Read ↗

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.Semantic proximity Read ↗

Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.Semantic proximity Read ↗

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.Semantic proximity Read ↗

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank.Semantic proximity Read ↗

Whole-genome sequencing identifies novel genes for autism in Chinese trios.Semantic proximity Read ↗

A critical review of the impact of candidate copy number variants on autism spectrum disorder.Semantic proximity Read ↗

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.Semantic proximity Read ↗

Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.