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Article

De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.

American journal of human genetics - 5 Jan 2023

Wiel Laurens, Hampstead Juliet E, Venselaar Hanka, Vissers Lisenka E L M, Brunner Han G, Pfundt Rolph, Vriend Gerrit, Veltman Joris A, Gilissen Christian

Abstract excerpt

Variant interpretation remains a major challenge in medical genetics. We developed Meta-Domain HotSpot (MDHS) to identify mutational hotspots across homologous protein domains. We applied MDHS to a dataset of 45,221 de novo mutations (DNMs) from 31,058 individuals with neurodevelopmental disorders (NDDs) and identified three significantly enriched missense DNM hotspots in the ion transport protein domain family...

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Identifiers

PMID: 36563679
DOI: 10.1016/j.ajhg.2022.12.001
PMCID: PMC9892778

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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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