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Article

Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family.

European journal of medical genetics - 1 Dec 2015

Duong Linh T T, Hoeffding Louise K, Petersen Kirsten B, Knudsen Charlotte D, Thygesen Johan H, Klitten Laura L, Tommerup Niels, Ingason Andrés, Werge Thomas

Abstract excerpt

CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia. Recently, studies have also revealed that CNVs in non-coding regions play an essential role in genomic variability in addition to disease susceptibility. In this study, we describe a family affected by a wide range of psychiatric disorders including early onset...

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Source

Identifiers

PMID: 26563496
DOI: 10.1016/j.ejmg.2015.11.004

Genes

NRXN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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