Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies : a novel case report and literature review of neuroimaging findings
García-Prieto, I Irene Díez; Lopez-Martín, Sara; Albert, Jacobo; de la Peña, Mar Jiménez; Fernández-Mayoralas, Daniel Martín; Calleja-Pérez, Beatriz; Fernández, María Teresa Gómez; Álvarez, Sara; Pihlajaniemi, Taina; Izzi, Valerio; Fernández-Jaén, Alberto (2022-03-06)
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
© 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 (http://creativecommons.org/licenses/by-nc-nd/4.0/), 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.
https://creativecommons.org/licenses/by-nc-nd/4.0/
https://urn.fi/URN:NBN:fi-fe2022042730802
Tiivistelmä
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.
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