Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome.

doi:10.7554/eLife.109104

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Article

Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome.

eLife - 3 Sept 2026

Lee Kang-Han, Stafford April M, Pacheco-Vergara Maria, Cichewicz Karol, Canales Cesar P, Seban Nicolas, Corea Melissa, Rahbarian Darlene, Bonekamp Kelly E, Gillie Grant R, Pacheco-Cruz Dariangelly, Gill Alyssa M, Hwang Hye-Eun, Kim Yeong-Eun, Uhl Katie L, Jager Tara E, Shinawi Marwan, Li Xiaopeng, Obenaus Andre, Crandall Shane R, Jeong Juhee, Nord Alex S, Kim Cheol-Hee, Vogt Daniel

Abstract excerpt

Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments and neurobehavioral phenotypes, including autism and seizures. Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms that result in these symptoms. One such example is DeSanto-Shinawi Syndrome (DESSH), a rare disorder caused by pathogenic variants in the...

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Topics

Animals
Zebrafish
Phenotype
Disease Models, Animal

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mice

Female

Male

Zebrafish Proteins

Intellectual Disability

Brain

GABAergic Neurons

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PMID: 42690726
DOI: 10.7554/eLife.109104
PMCID: PMC13541301

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