| Autor: |
Irene Díez García-Prieto I; Genomics and Medicine, NIMGenetics, Madrid, Spain., Lopez-Martín S; Faculty of Psychology, Universidad Autónoma De Madrid, Madrid, Spain.; Neuromottiva, Madrid, Spain., Albert J; Faculty of Psychology, Universidad Autónoma De Madrid, Madrid, Spain., Jiménez de la Peña M; Department of Radiology, Neuroimaging. Hospital Universitario Quirónsalud, Madrid, Spain., Fernández-Mayoralas DM; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain., Calleja-Pérez B; Pediatric Primary Care, C. S. Doctor Cirajas, Madrid, Spain., Gómez Fernández MT; Ophthalmology, ATAM Center, Madrid, Spain., Álvarez S; Genomics and Medicine, NIMGenetics, Madrid, Spain., Pihlajaniemi T; Faculty of Biochemistry and Molecular Medicine, Oulu Center for Cell-Matrix Research and Biocenter, University of Oulu, Oulu, Finland., Izzi V; Faculty of Biochemistry and Molecular Medicine, Oulu Center for Cell-Matrix Research and Biocenter, University of Oulu, Oulu, Finland., Fernández-Jaén A; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.; School of Medicine, Universidad Europea De Madrid, Madrid, Spain. |
| Abstrakt: |
. 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. |
