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

. 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 bra...

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Bibliographic Details
Published in:Neurocase 2022-01, Vol.28 (1), p.11-18
Main 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
Format: Article
Language:English
Subjects:
arcuate
autism
Cerebellum
Child, Preschool
COL18A1 gene
Collagen Type XVIII - genetics
developmental delay
Encephalocele
Endostatins - genetics
Humans
Knobloch syndrome
Male
Mutation
Neuroimaging
Retinal Degeneration
Retinal Detachment - congenital
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Summary:. 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. 
ISSN:1355-4794
1465-3656
DOI:10.1080/13554794.2021.1928228