ArticleJournal of molecular neuroscience : MN2020
Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.
Article in Journal of molecular neuroscience : MN, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Chromosomal regions strongly associated with waist circumference and body mass index in metabolic syndrome in a family-based study.Scientific reports · 2021Trial
- Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.The Journal of experimental medicine · 2025Article
- Exploring the pathological mechanisms underlying Cohen syndrome.Frontiers in neuroscience · 2024Review
- Article
- A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.Journal of molecular neuroscience : MN · 2021Article
- Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing.Pharmacogenomics and personalized medicine · 2021Article
- A Novel HomozygousFrontiers in pediatrics · 2021Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cohen syndrome is a rare autosomal recessive disorder characterized by hypotonia, obesity, developmental delay, mental retardation, and facial, oral, ophthalmic, and limb deformities. Mutations in VPS13B have been found to be responsible for this disorder. In the current report, we have assessed three Iranian families with developmental delay and skeletal deformities. Whole exome sequencing of the affected probands led to identification of the underlying genetic cause in these families. Three mutations were found in VPS13B gene. The detected mutations were c.4608_4609del (p.E1537Rfs*7), c.11486dupG (p.L3830Tfs*13), and c.10360dupC (p.L3454fs*7). The current study broadens the mutation spectrum of VPS13B gene and demonstrates different phenotypic features from classic Cohen syndrome. Moreover, the provided data can be used in genetic counseling and prenatal diagnosis of Iranian patients.
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