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Article

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Clinical genetics - 1 Jul 2026

Smith Elyssa, Faundes Victor, Zhao Xiaonan, Zheng Bixia, Zhang Gang, Mao Xiao, Danko Emily, Laufman Jason, Besnard Thomas, Isidor Bertrand, Cogné Benjamin, Jensson Brynjar Örn, Sulem Telma S, Sulem Patrick, Rosenfeld Jill A, Scott Daryl A

Abstract excerpt

WD and tetratricopeptide repeats protein 1 (WDTC1) encodes a component of the cullin-RING E3 ligase complexes that mediate polyubiquitination of specific target proteins for degradation and has been shown to regulate lipid storage in studies performed in Drosophila, mice, and humans. WDTC1 is expressed in a wide variety of tissues and organs including the brain and is predicted to be loss-of-function intolerant....

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PMID: 41793087
DOI: 10.1111/cge.70160

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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