A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.
Am J Med Genet A
; 194(8): e63611, 2024 08.
Article
in En
| MEDLINE
| ID: mdl-38528425
ABSTRACT
The mediator complex subunit 13 (MED13) gene is implicated in neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability, and speech delay with varying severity and course. Additional, extra central nervous system, features include eye or vision problems, hypotonia, congenital heart abnormalities, and dysmorphisms. We describe a 7-year- and 4-month-old girl evaluated for ASD whose brain magnetic resonance imaging was suggestive of multiple cortical tubers. The exome sequencing (ES - trio analysis) uncovered a unique, de novo, frameshift variant in the MED13 gene (c.4880del, D1627Vfs*17), with a truncating effect on the protein. This case report thus expands the phenotypic spectrum of MED13-related disorders to include brain abnormalities.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Tuberous Sclerosis
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Magnetic Resonance Imaging
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Frameshift Mutation
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Mediator Complex
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Autism Spectrum Disorder
Limits:
Child
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Female
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Humans
Language:
En
Year:
2024
Type:
Article