A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity.

doi:10.1038/s41380-025-03242-3

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Article

A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity.

Molecular psychiatry - 1 Mar 2026

Kaas Mathias, Dinesen Sarah Broholt, Ahlgreen Ole, Madsen Peder, Mølgaard Simon, Dalby Anders, Gustafsen Camilla, Olsen Ditte, Duan Jinjie, Vilstrup Joachim, Lende Jonas, Nordestgaard Sanne, Zayats Tetyana, Knappskog Per Morten, Johansson Stefan, Neckelmann Gesche, Franke Barbara, Thirup Søren, Børglum Anders, Reif Andreas, Vægter Christian, Demontis Ditte, Haavik Jan, Glerup Simon, Skeldal Sune

Abstract excerpt

Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder affecting 5% of children and 2.5% of adults worldwide. ADHD is considered a polygenic disorder caused by a combination of both common and rare risk variants, each with low individual effect size. The Vps10p domain receptor SorCS2 is involved in neuronal development and synaptic plasticity by modulating brain-derived...

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Identifiers

PMID: 40968259
DOI: 10.1038/s41380-025-03242-3
PMCID: PMC12916480

Genes

SORCS2
BDNF

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

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