Author: Bolysbek Dana
Editor: Merentsova Anastasia
Microcephaly is a congenital anomaly in which there is a significant decrease in the size of the skull and, accordingly, the brain, while other parts of the body are normal. In combination with improper brain development in children with microcephaly, there are physical and psycho-emotional development disorders.
The study involved seven patients from five families with new variants of the LMNB1 gene with severe microcephaly as the main feature.
A functional analysis of each gene variant and the resulting protein lamin B1 showed that they act in a dominant manner, disrupting the integrity of the nuclear envelope, which leads to deformation of the nucleus.
It was previously known that duplications (doubling of chromosomes) in the LMNB1 gene are a known cause of autosomal dominant leukodystrophy (a group of severe hereditary diseases characterized mainly by lesions of the white matter of the brain and spinal cord) in adults. But in this study, it was first described that variants of this gene can cause congenital anomalies due to the destruction of the nuclear envelope.
"The findings add LMNB1 to the list of genes involved in severe autosomal dominant microcephaly and broaden the phenotypic spectrum of laminopathies,"- the authors of the work say.
Source: https://medicalxpress.com/news/2020-09-syndromic-microcephaly.html
