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<p>Keloids are fibroproliferative scars influenced by genetic predisposition, notably involving the ASAH1 gene, which encodes acid ceramidase. A prior study identified a pathogenic ASAH1 variant (NM_004315.6:c.1202 T &gt; C;NP_004306.3:p.(L401P)) in a Yoruba family with keloids. To investigate ASAH1 variant prevalence, we screened 291 Black patients with keloids in the Genetic Causes of Keloid Formation Study. Although the original variant was not detected, four novel rare ASAH1 variants were identified.&#xa0;None of the four&#xa0;were&#xa0;present in 718 race-matched controls. Functional predictions using SIFT and PolyPhen were used to predict which rare variants may be damaging. ASAH1 dysfunction is implicated in Farber disease, a lipid storage disorder affecting wound healing. These findings support further investigation into ASAH1’s role in keloid pathogenesis and the development of personalized therapeutic approaches.</p>

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Broadening the mutational spectrum of ASAH1, as a susceptibility gene for keloids

  • 期刊论文

  • 发表日期：

    2025年7月25日

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  • Sepideh Hamzehlou,
  • Chao Xing,
  • Donald A. Glass II

摘要

Keloids are fibroproliferative scars influenced by genetic predisposition, notably involving the ASAH1 gene, which encodes acid ceramidase. A prior study identified a pathogenic ASAH1 variant (NM_004315.6:c.1202 T > C;NP_004306.3:p.(L401P)) in a Yoruba family with keloids. To investigate ASAH1 variant prevalence, we screened 291 Black patients with keloids in the Genetic Causes of Keloid Formation Study. Although the original variant was not detected, four novel rare ASAH1 variants were identified. None of the four were present in 718 race-matched controls. Functional predictions using SIFT and PolyPhen were used to predict which rare variants may be damaging. ASAH1 dysfunction is implicated in Farber disease, a lipid storage disorder affecting wound healing. These findings support further investigation into ASAH1’s role in keloid pathogenesis and the development of personalized therapeutic approaches.