Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

doi:10.1016/j.gim.2021.09.014

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Article

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2022

Qi Cai, Feng Irena, Costa Ana Rita, Pinto-Costa Rita, Neil Jennifer E, Caluseriu Oana, Li Dong, Ganetzky Rebecca D, Brasch-Andersen Charlotte, Fagerberg Christina, Hansen Lars Kjærsgaard, Bupp Caleb, Muraresku Colleen Clarke, Ruan Xiangbin, Kang Bowei, Hu Kaining, Zhong Rong, Brites Pedro, Bhoj Elizabeth J, Hill Robert Sean, Falk Marni J, Hakonarson Hakon, Kahle Kristopher T, Sousa Monica M, Walsh Christopher A, Zhang Xiaochang

Abstract excerpt

PURPOSE: Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown. METHODS: We used exome sequencing to uncover ADD1 variants associated with intellectual disability (ID) and brain malformations. We studied ADD1 splice...

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PMID: 34906466
DOI: 10.1016/j.gim.2021.09.014
PMCID: PMC8802223

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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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