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

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

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 uncov...

Full description

Bibliographic Details
Main Authors: Bhoj, E.J (Author), Brasch-Andersen, C. (Author), Brites, P. (Author), Bupp, C. (Author), Caluseriu, O. (Author), Costa, A.R (Author), Fagerberg, C. (Author), Falk, M.J (Author), Feng, I. (Author), Ganetzky, R.D (Author), Hakonarson, H. (Author), Hansen, L.K (Author), Hill, R.S (Author), Hu, K. (Author), Kahle, K.T (Author), Kang, B. (Author), Li, D. (Author), Muraresku, C.C (Author), Neil, J.E (Author), Pinto-Costa, R. (Author), Qi, C. (Author), Ruan, X. (Author), Sousa, M.M (Author), Walsh, C.A (Author), Zhang, X. (Author), Zhong, R. (Author)
Format: Article
Language:English
Published: Elsevier B.V. 2022
Subjects:
Adducin
Agenesis of Corpus Callosum
Alternative splicing
animal
Animals
Axon degeneration
copy number variation
corpus callosum agenesis
DNA Copy Number Variations
genetics
human
Humans
hydrocephalus
Hydrocephalus
Intellectual Disability
intellectual impairment
Membrane-associated periodic ring-like structure (MPS)
Mice
mouse
pathology
phenotype
Phenotype
Online Access:View Fulltext in Publisher

Internet

View Fulltext in Publisher

Similar Items