Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings. Issue 1 (2nd January 2022)

• Record Type: Journal Article
• Authors: Irene Díez García-Prieto, I; Lopez-Martín, Sara; Albert, Jacobo; Jiménez de la Peña, Mar; Fernández-Mayoralas, Daniel Martín; Calleja-Pérez, Beatriz; Gómez Fernández, María Teresa; Álvarez, Sara; Pihlajaniemi, Taina; Izzi, Valerio; Fernández-Jaén, Alberto
• Is Part Of: Neurocase. Volume 28:Issue 1(2022)
• Page Start: 11
• Page End: 18
• Publication Date: 2022-01-02
• Subjects: COL18A1 gene -- Knobloch syndrome -- autism -- arcuate -- developmental delay; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2021.1928228
• Languages: English
• ISSNs: 1355-4794

Abstract

ABSTRACT: . COL18A1 gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. Here we report a 4.5 years-old male child with autism and two novel COL18A1 mutations (NM_030582.4: c.1883_1891dup and c.1787C>T). Hypermetropic astigmatism, but not brain migration disorders, was observed. However, an asymmetric pattern of cerebellar perfusion and a smaller arcuate fascicle were found. Low levels of collagen XVIII were also observed in the patient´s serum. Thus, biallelic loss-of-function mutations in COL18A1 may be a new cause of autism without the brain malformations typically reported in patients with Knobloch syndrome.