Background: Cohen syndrome (CS) is a rare autosomal recessive inherited condition characterized by pathological changes affecting multiple systems. The extensive clinical variability associated with CS poses a significant diagnostic challenge. Additionally, there is limited documentation on the co-occurrence of CS with psychiatric symptoms.
Case Report: We report a case of a 30-year-old patient exhibiting characteristic physical features and psychiatric symptoms. Whole exome sequencing identified two heterozygous variants, a nonsense variation c.4336 C > T and a missense mutation c.4729G > A. Integrating clinical manifestations with genetic test results, we established the diagnosis of CS combined with psychiatric symptoms.
Conclusions: This case introduces a novel missense variant as a candidate in the expanding array of VPS13B pathogenic variants. Its clinical significance remains unknown, and further investigation may broaden the spectrum of pathogenic variants associated with the VPS13B gene. Early diagnosis of CS is crucial for the prognosis of young children and holds significant importance for their families.
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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.*
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