A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
Kazuo Abe1, Kumiko Ando1, Mitsuhiro Kato1
1Department of Neurology (Kazuo Abe, T.K.), Hyogo College of Medicine Hospital; Center of Neurology (Kazuo Abe), Gratia Hospital; Department of Diagnostic Radiology (Kumiko Ando), Kobe City Medical Center General Hospital; Department of Pediatrics (M.K.), Showa University School of Medicine; and Department of Biochemistry (H.S., M.N., S.A.), Hamamatsu University School of Medicine.
Objective:
In this study, we report the case of a 24-year-old man with intellectual disability and childhood-onset seizures. This patient had newly identified biallelic variants in the laminin subunit gamma 3 (LAMC3) gene with unreported cortical malformation.
Methods:
Exome sequencing.
Results:
Genetic analyses revealed new biallelic variants in the LAMC3 gene. An MRI examination of the brain revealed cortical malformations predominantly in the temporal lobes and mildly in the occipital, frontal, and parietal lobes. In addition, our patient also exhibited mild midline malformation in the ventral pons, which is unique to LAMC3 variants.
Discussion:
Patients with LAMC3 variants have been reported to exhibit cortical malformation predominantly in the occipital lobes, but this patient exhibited cortical malformation predominantly in the temporal lobes and mildly in the occipital, frontal, and parietal lobes. In addition, this patient also exhibited mild midline malformation in the ventral pons. These unique findings cast new light on the role of LAMC3 in brain development.
Related Concept Videos
Lampbrush Chromosomes
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Laminins are the Adhesive Proteins of Basal Lamina
In humans, the five forms of alpha chains are LAMA 1, LAMA 2, LAMA 3, LAMA 4, and LAMA 5. The four forms of beta chains are LAMB 1, LAMB 2, LAMB 3, and LAMB 4. The three forms of gamma...
Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
Pleiotropy


