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Article

Intrafamilial Variability in NRXN1-Associated Neurodevelopmental Disorders: Clinical and Genetic Insights from a Family Case Study with Literature Review.

International journal of molecular sciences - 13 Jul 2026

Kastratovic Nikolina, Gazdic Jankovic Marina, Miletic Kovacevic Marina, Nikolic Sandra, Pavlovic Dragica, Perovic Dijana, Janjic Vladimir, Ljujic Biljana

Abstract excerpt

The neurexin1 gene (NRXN1) encodes a presynaptic adhesion molecule that plays a critical role in synapse formation, maintenance, and function. Copy-number variants (CNVs) affecting the NRXN1 locus, including submicroscopic deletions, represent rare variant acting as a predisposition for neurodevelopmental disorders, such as Pitt-Hopkins-like syndrome type 2 (MIM #614325) and susceptibility to schizophrenia (MIM...

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Share to Calcium-Binding Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42511584
DOI: 10.3390/ijms27146241
PMCID: PMC13409882

Genes

NRXN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Intrafamilial Variability in NRXN1-Associated Neurodevelopmental Disorders: Clinical and Genetic Insights from a Family Case Study with Literature Review.PMID 42511584Read ↗

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