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

Neurocase 2022 Feb

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. 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.

Citation

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. Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings. Neurocase. 2022 Feb;28(1):11-18