University of Oulu

I Irene Díez García-Prieto, Sara Lopez-Martín, Jacobo Albert, Mar Jiménez de la Peña, Daniel Martín Fernández-Mayoralas, Beatriz Calleja-Pérez, María Teresa Gómez Fernández, Sara Álvarez, Taina Pihlajaniemi, Valerio Izzi & Alberto Fernández-Jaén (2022) Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings, Neurocase, 28:1, 11-18, DOI: 10.1080/13554794.2021.1928228

Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies : a novel case report and literature review of neuroimaging findings

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Author: García-Prieto, I Irene Díez1; Lopez-Martín, Sara2,3; Albert, Jacobo2;
Organizations: 1Genomics and Medicine, NIMGenetics, Madrid, Spain
2Faculty of Psychology, Universidad Autónoma De Madrid, Madrid, Spain
3Neuromottiva, Madrid, Spain
4Department of Radiology, Neuroimaging. Hospital Universitario Quirónsalud, Madrid, Spain
5Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain
6Pediatric Primary Care, C. S. Doctor Cirajas, Madrid, Spain
7Ophthalmology, ATAM Center, Madrid, Spain
8Faculty of Biochemistry and Molecular Medicine, Oulu Center for Cell-Matrix Research and Biocenter, University of Oulu, Oulu, Finland
9School of Medicine, Universidad Europea De Madrid, Madrid, Spain
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 3.4 MB)
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Language: English
Published: Informa, 2022
Publish Date: 2022-04-27


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.

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Series: Neurocase
ISSN: 1355-4794
ISSN-E: 1465-3656
ISSN-L: 1355-4794
Volume: 28
Issue: 1
Pages: 11 - 18
DOI: 10.1080/13554794.2021.1928228
Type of Publication: A1 Journal article – refereed
Field of Science: 3125 Otorhinolaryngology, ophthalmology
Funding: This work was supported by grants from the Academy of Finland, the Sigrid Jusélius Foundation, the Jane and Aatos Erkko Foundation and the Comunidad de Madrid-UAM (SI1/PJI/2019–00061).
Copyright information: © 2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License (, which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way.