Article
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
American journal of medical genetics. Part A - 1 Jul 2024
Ha Thoa, Morgan Angela, Bartos Meghan N, Beatty Katelyn, Cogné Benjamin, Braun Dominique, Gerber Céline B, Gaspar Harald, Kopps Anna M, Rieubland Claudine, Hurst Anna C E, Amor David J, Nizon Mathilde, Pasquier Laurent, Pfundt Rolph, Reis André, Siu Victoria Mok, Tessarech Marine, Thompson Michelle L, Vincent Marie, de Vries Bert B A, Walsh Matthew B, Wechsler Stephanie Burns, Zweier Christiane, Schnur Rhonda E, Guillen Sacoto Maria J, Margot Henri, Masotto Barbara, Palafoll Maria Irene Valenzuela, Nawaz Urwah, Voineagu Irina, Slavotinek Anne
Abstract excerpt
The disconnected (disco)-interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase-associated protein 1 (DMAP1) binding domain, Acyl-CoA synthetase domain and AMP-binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons in D. melanogaster and is required for axonal regeneration in the neurons of C. elegans. The DIP2 homologues in...
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