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, 2022 02.
Article
em En
| MEDLINE
| ID: mdl-35253627
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Endostatinas
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Colágeno Tipo XVIII
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Neurocase
Ano de publicação:
2022
Tipo de documento:
Article