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<p>Neutropenia has been recognized as a common feature of Cohen Syndrome, but its role as an early manifestation has not been fully elucidated. In this report, we present three patients diagnosed with Cohen Syndrome who were referred for neutropenia. All patients exhibited consistent clinical features of Cohen Syndrome, with neutropenia being the indication for genetic research. Neutropenia was the most prominent finding in all patients, and in one case, it was the earliest finding with other specific features. Additionally, we identified two novel variants, c.6107del (p.Asp2036Valfs*3) and c.5703del (p.Arg1901SerfsTer10) in the <i>VPS13B</i> gene, further contributing to the genetic understanding of this syndrome. Our findings emphasize the importance of early recognition of neutropenia as a key clinical sign in the diagnosis of Cohen Syndrome. Furthermore, these novel variants expand the genetic spectrum of the disorder and highlight the need for continued genetic investigation in rare syndromes.</p>

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Neutropenia is a consistent and the earliest manifestation of Cohen’s syndrome: three cases and two novel variants in VPS13B gene

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月19日

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  • Aysel Tekmenuray-Unal,
  • Ayse Oz,
  • Sultan Aydın

摘要

Neutropenia has been recognized as a common feature of Cohen Syndrome, but its role as an early manifestation has not been fully elucidated. In this report, we present three patients diagnosed with Cohen Syndrome who were referred for neutropenia. All patients exhibited consistent clinical features of Cohen Syndrome, with neutropenia being the indication for genetic research. Neutropenia was the most prominent finding in all patients, and in one case, it was the earliest finding with other specific features. Additionally, we identified two novel variants, c.6107del (p.Asp2036Valfs*3) and c.5703del (p.Arg1901SerfsTer10) in the VPS13B gene, further contributing to the genetic understanding of this syndrome. Our findings emphasize the importance of early recognition of neutropenia as a key clinical sign in the diagnosis of Cohen Syndrome. Furthermore, these novel variants expand the genetic spectrum of the disorder and highlight the need for continued genetic investigation in rare syndromes.