Brain Dev 2021 Nov 17;43(10):1033-1038. Epub 2021 Jul 17.
Division of Child Neurology, Institute of Neurological Sciences, School of Medicine, Tottori University, Yonago, Japan.
Background: The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. Read More