[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria]
M Castro-Gago1, C Gómez-Lado2, F Barros-Angueira3
1Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, España.
Introduction:
The aetiology of autosomal dominant mental retardation type 1, also known as pseudo-Angelman, MBD5-associated neurodevelopmental disorder or MBD5 haploinsufficiency, lies in a microdeletion of chromosome 2q23.1 or in a specific alteration of the MBD5 gene, which constitutes the minimum region affected in the aforementioned microdeletion.
Aim:
To report the case of a girl with a heterozygous de novo mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria.
Case Report:
We report the case of an 8-year-old girl who was submitted to a developmental follow-up from the age of 18 months after presenting the association of severe intellectual disability and motor delay, lack of language development, segmental hypotonia, a wide forehead and kyphoscoliosis. Magnetic resonance imaging of the brain revealed the presence of a bilateral band heterotopia and parietooccipital polymicrogiria predominant on the left side. In the exome the de novo heterozygous variant c.397+1G>C was detected in the MBD5 gene.
Conclusion:
This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder.
Insights
A novel MBD5 gene mutation caused a rare neurodevelopmental disorder in a young girl, presenting with severe intellectual disability and brain abnormalities like heterotopia and polymicrogyria.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- MBD5 haploinsufficiency, or autosomal dominant mental retardation type 1, is linked to chromosome 2q23.1 microdeletions or MBD5 gene alterations.
- This genetic condition affects neurodevelopment and is associated with intellectual disability.
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