Publication
A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity
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Two members of a family with persistent ADHD were found to carry a damaging, heterozygous variant in the SORCS2 gene
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How the variant leads to aberrant posttranslational receptor processing, subcellular localisation, and ligand binding
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How the variant abrogates BDNF signalling in a dominant-negative manner
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How ioGlutamatergic Neurons were used
Kaas M, et al.
Molecular Psychiatry
2026