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Article

MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

European journal of medical genetics - 1 Nov 2023

Sloboda Natacha, Renard Emeline, Lambert Laetitia, Bonnet Céline, Leheup Bruno, Todosi Calina, Schmitt Emmanuelle, Feillet François, Feigerlova Eva, Piton Amélie, Journeau Pierre, Klein Marc, Maillard Louis, Chelly Jamel, Renaud Mathilde

Abstract excerpt

OBJECTIVE: Heterozygous variations in microtubule-associated serine/threonine kinase 1 gene (MAST1) were recently described in the mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM, MIM 618273), revealing the importance of the MAST genes family in global brain development. To date, patients with MAST1 gene mutations were mostly young children with central nervous system...

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PMID: 37758169
DOI: 10.1016/j.ejmg.2023.104853

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