Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS-induced neutropenia and petechiae in patients with CS.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301562 | PMC |
| http://dx.doi.org/10.1002/ccr3.4492 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa.
BMC Ophthalmol
August 2025
Hebei Key Laboratory of Ophthalmology, Hebei Provincial Clinical Research Center for Eye Diseases, Hebei Eye Hospital, Xingtai, Hebei, 054001, China.
Background: Cohen syndrome is a rare autosomal recessive disorder characterized by facial anomalies with or without microcephaly, non-progressive intellectual disability, hypotonia, ocular abnormalities, and neutropenia. Due to its low prevalence and diverse presentations, much information about the disease, including ocular manifestations, is not yet fully understood. To date, there is a paucity of literature on Cohen syndrome, which is characterized by predominantly ocular manifestations and typical manifestations in multiple systems throughout the body.
View Article and Find Full Text PDFPhysical therapy rehabilitation of Cohen syndrome in Pakistan.
J Pak Med Assoc
July 2025
University Institute of Physical Therapy, The University of Lahore, Lahore, Pakistan.
Cohen Syndrome is a rare genetic disorder. It is caused by the mutation of VPS13b gene which is present on chromosome number 8. It was first described in 1973.
View Article and Find Full Text PDFExome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Cells
June 2025
Genetic Medico-Diagnostic Laboratory Genica, 1000 Sofia, Bulgaria.
Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside segregation analyses of their families.
View Article and Find Full Text PDFWhole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis.
Clin Rheumatol
April 2025
Faculty of Medicine, Ardıçlı, Department of General Surgery Selcuk University, Celal Bayar Cd. No:313, Konya, Turkey.
Backgrounds: To reveal rare genetic factors that cause susceptibility to idiopathic granulomatous mastitis (IGM).
Methods: Whole exome sequencing (WES) was performed in 30 patients with histopathologically diagnosed idiopathic granulomatous mastitis. WES analysis mainly focused on 317 genes linked to autoimmunity, autoinflammation, and immune dysregulation.
Stairway to the Golgi: Two paths VPS13B can go by.
J Cell Biol
December 2024
ICFO-Institut de Ciencies Fotoniques, The Barcelona Institute of Science and Technology, Barcelona, Spain.
Article Synopsis
- VPS13 proteins are involved in transferring lipids between cell membranes, with VPS13B linked specifically to Golgi membranes.
- Mutations in VPS13B are responsible for a genetic condition known as Cohen syndrome.
- Recent studies by Ugur et al. and Du et al. have identified new proteins that interact with VPS13B and outlined their roles in maintaining Golgi structure and movement within the cell.*