ArticleBMC medical genetics2019
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.
Article in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 19 citations in OpenAlex.
- [Cohen syndrome in a child caused by compound heterozygous variants inZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Article
- Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series.Translational neuroscience · 2023Article
- Cohen syndrome in two patients from China.Molecular genetics & genomic medicine · 2022Article
- A case of a Jordanian male twin with Cohen's syndrome, with genetic analysis and muscle biopsy; case report.Annals of medicine and surgery (2012) · 2021Article
- A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.Clinical case reports · 2021Article
- Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree 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
- Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome.Journal of molecular neuroscience : MN · 2020Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION: A Chinese family with two offspring-patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly.
conclusionsThis study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.
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