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<p>We present here the first case report of Bamforth-Lazarus syndrome (BLS) in two siblings from Oman, with a novel mutation, p.Phe89Leu (F89L) in the <i>FOXE1</i> gene. This study utilized an in-silico functional assessment strategy for use in extremely rare disorders such as BLS to assess the pathogenicity of novel variant. First, all previously reported germline pathogenic mutations in the <i>FOXE1</i> gene were mapped. All previously-reported pathogenic missense mutations were located within the DNA-binding Forkhead domain critical to the transcription factor binding function of the <i>FOXE1</i> protein. The F89L variant was also located in a highly conserved locus within the Forkhead domain. This was a strong indication that the novel mutation, F89L could likely be deleterious for protein function. Based on family segregation analysis, bioinformatic analyses and protein modelling, sufficient evidence was accrued to classify the novel F89L mutation as being pathogenic according to ACMG guidelines.</p>

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Novel FOXE1 Mutation Associated with the Rare Bamforth-Lazarus Syndrome in an Omani Family

  • 期刊论文

  • 发表日期：

    2026年7月21日

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  • Musallam Al-Araimi,
  • Nishath Hamza,
  • Nabras Al-Mahrami,
  • Aliya Al Hosni,
  • Mai Al Issa

摘要

We present here the first case report of Bamforth-Lazarus syndrome (BLS) in two siblings from Oman, with a novel mutation, p.Phe89Leu (F89L) in the FOXE1 gene. This study utilized an in-silico functional assessment strategy for use in extremely rare disorders such as BLS to assess the pathogenicity of novel variant. First, all previously reported germline pathogenic mutations in the FOXE1 gene were mapped. All previously-reported pathogenic missense mutations were located within the DNA-binding Forkhead domain critical to the transcription factor binding function of the FOXE1 protein. The F89L variant was also located in a highly conserved locus within the Forkhead domain. This was a strong indication that the novel mutation, F89L could likely be deleterious for protein function. Based on family segregation analysis, bioinformatic analyses and protein modelling, sufficient evidence was accrued to classify the novel F89L mutation as being pathogenic according to ACMG guidelines.