Open Access

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma

  • Authors:
    • Jing Zhang
    • Yue Yao
    • Ya Tan
    • Hua-Ying Hu
    • Lin-Xi Zeng
    • Guo-Qiang Zhang
  • View Affiliations

  • Published online on: May 1, 2024     https://doi.org/10.3892/mmr.2024.13235
  • Article Number: 111
  • Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation. Genetic testing was conducted using whole‑exome sequencing, with Sanger sequencing as the validation method. The MEGA7 program was used to analyze the conservation of amino acid residues affected by the detected missense variants. The enrolled patients exhibited ichthyosis‑like but distinct clinical manifestations. Genetic analysis identified diagnostic variations in the FLG, STS, KRT10 and SERPINB7 genes and clarified the carrying status of each variant in the respective family members. The two residues affected by the detected missense variants remained conserved across multiple species. Of note, the two variants, namely STS: c.452C>T(p.P151L) and c.647_650del(p.L216fs) are novel. In conclusion, a clear genetic differential diagnosis was made for the enrolled ichthyosis‑associated patients; the study findings also extended the mutation spectrum of ichthyosis and provided solid evidence for the counseling of the affected families.
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July-2024
Volume 30 Issue 1

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Zhang J, Yao Y, Tan Y, Hu H, Zeng L and Zhang G: Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma. Mol Med Rep 30: 111, 2024
APA
Zhang, J., Yao, Y., Tan, Y., Hu, H., Zeng, L., & Zhang, G. (2024). Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma. Molecular Medicine Reports, 30, 111. https://doi.org/10.3892/mmr.2024.13235
MLA
Zhang, J., Yao, Y., Tan, Y., Hu, H., Zeng, L., Zhang, G."Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma". Molecular Medicine Reports 30.1 (2024): 111.
Chicago
Zhang, J., Yao, Y., Tan, Y., Hu, H., Zeng, L., Zhang, G."Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma". Molecular Medicine Reports 30, no. 1 (2024): 111. https://doi.org/10.3892/mmr.2024.13235