Complementary Vertebrate Wac Models Exhibit Phenotypes Relevant to DeSanto-Shinawi Syndrome

Authors

• Kang-Han Lee
• April M Stafford
• Maria Pacheco-Vergara
• Karol Cichewicz
• Cesar P Canales
• Nicolas Seban
• Melissa Corea
• Darlene Rahbarian
• Kelly E Bonekamp
• Tara E. Jager, Corewell Health West

Document Type

Article

Publication Date

9-2026

Publication Title

eLife

Abstract

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

Volume

14

First Page

RP109104

Last Page

RP109104

Recommended Citation

Stafford AM, Lee K-H, Pacheco-Vergara M, Cichewicz K, Canales CP, Seban N, et al. [Jager TE]. Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome. eLife. 2026;14. doi: 10.7554/eLife.109104. PMID: 42690726.

DOI

10.7554/eLife.109104

ISSN

2050-084X

PubMed ID

42690726