Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
. 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 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 may be a new cause of autism without the brain malformations typically reported in patients with Knobloch syndrome.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/13554794.2021.1928228 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.
Genes (Basel)
July 2025
Research Department, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.
Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are , , and , respectively.
View Article and Find Full Text PDFOccipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.
Prenat Diagn
July 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada.
Knobloch Syndrome-1 is a rare autosomal recessive disorder typically diagnosed postnatally and characterized by occipital encephalocele, high myopia, and vitreoretinal degeneration. We describe a fetus with a constellation of prenatal neuroimaging findings, including occipital cephalocele, vermian dysplasia, bilateral polymicrogyria, and ocular elongation, that prompted genetic investigation. Trio exome sequencing identified biallelic pathogenic variants in COL18A1, confirming the diagnosis of Knobloch Syndrome-1.
View Article and Find Full Text PDFOphthalmological and Genetic Profile in Knobloch Syndrome.
Am J Ophthalmol
September 2025
Eye Institute, Cleveland Clinic Abu Dhabi (A.O.K., N.G.G.), Abu Dhabi, United Arab Emirates; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA.
Purpose: To analyze the clinical and genetic characteristics of Knobloch syndrome (KNO) in a large cohort, with a focus on retinal detachment (RD) characteristics, surgical outcomes, and variants in the COL18A1 gene.
Design: Retrospective, multicenter interventional/observational case series.
Subjects: Thirty-four patients (68 eyes) with clinically and genetically confirmed KNO were included.
Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report.
Int J Surg Case Rep
May 2025
Department of Ophthalmology & Visual Sciences, Cumming School of Medicine, University of Calgary, Calgary, Canada.
Introduction And Importance: A potential relationship between bilateral retinal detachment, chylothorax, and purpura fulminans in a female neonate with a PAK2 gene variant is not commonly reported. This emphasizes the significance of early ophthalmologic assessment in neonates with congenital chylothorax.
Case Presentation: A full-term female infant weighing 2.
Chinese Family With Knobloch Syndrome Associated With a Novel PAK2 Variant Leading to Reduced Phosphorylation Levels.
Mol Genet Genomic Med
April 2025
Department of Neurology, Anhui Provincial Children's Hospital/Children's Hospital of Fudan University (Affiliated Anhui Branch), Hefei, China.
Background: Biallelic variants of COL18A1 cause Knobloch syndrome (KNO), a rare genetic disorder, characterized by oculopathy and structural defects. Recently, several studies have suggested that novel de novo missense variants in PAK2 may be associated with KNO; however, there are few case reports. This study aimed to investigate a patient with KNO who initially presented with seizures and expand the PAK2 genotype and phenotype spectrum.
View Article and Find Full Text PDF