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Article Dans Une Revue European Journal of Medical Genetics Année : 2023

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

Résumé

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 involvement, impaired motor function, speech delay, and brain magnetic resonance imaging (MRI) abnormalities. Here, we report the clinical presentation of an adult patient with a rare and de novo MAST1 mutation with central hypogonadism that could extend this phenotype. Methods: A panel of 333 genes involved in epilepsy or cortical development was sequenced in the described patient. Routine biochemical analyses were performed, and hormonal status was investigated. Result: We report a 22-year-old man with a de novo, heterozygous missense variant in MAST1 (Chr19(GRCh37):g.12975903G > A, NP_055790.1:p.Gly517Ser). He presented with an epileptic encephalopathy associated with cerebral malformations, short stature, hypogonadotropic hypogonadism, and secondary osteopenia. Conclusion: This is the first patient with MAST1 gene mutation described with central hypogonadism, which may be associated with the phenotype of MCCCHCM syndrome.

Domaines

Génétique
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Dates et versions

hal-04367085 , version 1 (29-12-2023)

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Natacha Sloboda, Emeline Renard, Laetitia Lambert, Céline Bonnet, Bruno Leheup, et al.. MAST1-related mega-corpus-callosum syndrome with central hypogonadism. European Journal of Medical Genetics, 2023, 66 (11), pp.104853. ⟨10.1016/j.ejmg.2023.104853⟩. ⟨hal-04367085⟩
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