1. Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies:a novel case report and literature review of neuroimaging findings
- Author
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García-Prieto, I. I. (I Irene Díez), Lopez-Martín, S. (Sara), Albert, J. (Jacobo), de la Peña, M. J. (Mar Jiménez), Fernández-Mayoralas, D. M. (Daniel Martín), Calleja-Pérez, B. (Beatriz), Fernández, M. T. (María Teresa Gómez), Álvarez, S. (Sara), Pihlajaniemi, T. (Taina), Izzi, V. (Valerio), Fernández-Jaén, A. (Alberto), García-Prieto, I. I. (I Irene Díez), Lopez-Martín, S. (Sara), Albert, J. (Jacobo), de la Peña, M. J. (Mar Jiménez), Fernández-Mayoralas, D. M. (Daniel Martín), Calleja-Pérez, B. (Beatriz), Fernández, M. T. (María Teresa Gómez), Álvarez, S. (Sara), Pihlajaniemi, T. (Taina), Izzi, V. (Valerio), and Fernández-Jaén, A. (Alberto)
- 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.
- Published
- 2022