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Article

Clinical Phenotypes Associated with NRXN1 Deletions in Five Children with Autism Spectrum Disorder in Oman.

Sultan Qaboos University medical journal - 1 Jan 2026

AlHousni Samira Said, Idris Ahmed, Al-Mamari Watfa, Al-Sayegh Abeer

Abstract excerpt

NRXN1 (2p16.3) is essential for synaptic function and has been implicated in autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, the phenotypic features associated with NRXN1 copy number variants remains incompletely characterised, which complicates risk assessment in genetic counselling. This case series describes five children, who were evaluated at the Genetics and Developmental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42549207
DOI: 10.18295/2075-0528.3002
PMCID: PMC13431230

Genes

NRXN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Clinical Phenotypes Associated with NRXN1 Deletions in Five Children with Autism Spectrum Disorder in Oman.PMID 42549207Read ↗

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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.Semantic proximity Read ↗

Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.Semantic proximity Read ↗

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

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