MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
Am J Med Genet A
; 182(6): 1483-1490, 2020 06.
Article
en En
| MEDLINE
| ID: mdl-32198973
ABSTRACT
We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans showed thickened corpus callosum, cortical malformations, and dilated and abnormal configuration of the lateral ventricles without hydrocephalus. Whole-exome sequence uncovered a de novo variant in the microtubule associated serine/threonine kinase 1 gene (MAST1; NM_014975.3c.1565G>Ap.(Gly522Glu)) that encodes for the MAST1. Only 12 patients have been identified worldwide with 10 different variants in this gene six patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; two patients with microcephaly and cerebellar hypoplasia; two patients with autism, one patient with diplegia, and one patient with microcephaly and dysmorphism. Our patient shows a new phenotypic subtype defined by mega-corpus-callosum syndrome with cortical malformations without cerebellar hypoplasia. In conclusion, our data expand the phenotypic spectrum associated to MAST1 gene variants.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cerebelo
/
Proteínas Serina-Treonina Quinasas
/
Agenesia del Cuerpo Calloso
/
Microcefalia
/
Proteínas Asociadas a Microtúbulos
/
Malformaciones del Sistema Nervioso
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
España