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<p>Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive neurodegeneration, growth failure, and premature aging due to defective DNA repair. Variants in the <i>ERCC6</i> and <i>ERCC8</i> genes lead to defective transcription-coupled nucleotide excision repair, resulting in multisystem involvement. We report a 5-month-old Bahraini male infant born to consanguineous parents who presented with severe failure to thrive, microcephaly, and distinctive craniofacial features. Genetic testing via exome sequencing (ES) identified a homozygous pathogenic variant in the <i>ERCC6</i> (c.2047&#xa0;C &gt; T p.(Arg683*), confirming the diagnosis of Cockayne Syndrome Type B. The patient’s management was largely supportive, focusing on nutritional optimization, multidisciplinary follow-up, and symptom-specific interventions. Despite advances in genetic diagnostics, CS remains a progressive and life-limiting disorder with no definitive treatment. To the best of our knowledge, this is the first genetically confirmed CSB case reported from Bahrain. It documents an <i>ERCC6</i> p.Arg683* genotype presenting with a classical CSB phenotype and expands genotype–phenotype correlations in Arab populations. These findings emphasize the importance of early diagnosis by next-generation sequencing and genetic counseling to mitigate disease impact. Increased clinician awareness is essential for timely intervention and improved outcomes.</p>

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A Rare Case of Cockayne Syndrome Type B in Bahrain: Insights from an ERCC6 Variant

  • 期刊论文

  • 发表日期：

    2025年9月19日

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  • Aiman D. Khudair,
  • Fatima Alhakim,
  • Ahmed D. Khudair,
  • Rachel A. Marshall,
  • Babaker Kamblawi,
  • Hisham Y. Hassan

摘要

Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive neurodegeneration, growth failure, and premature aging due to defective DNA repair. Variants in the ERCC6 and ERCC8 genes lead to defective transcription-coupled nucleotide excision repair, resulting in multisystem involvement. We report a 5-month-old Bahraini male infant born to consanguineous parents who presented with severe failure to thrive, microcephaly, and distinctive craniofacial features. Genetic testing via exome sequencing (ES) identified a homozygous pathogenic variant in the ERCC6 (c.2047 C > T p.(Arg683*), confirming the diagnosis of Cockayne Syndrome Type B. The patient’s management was largely supportive, focusing on nutritional optimization, multidisciplinary follow-up, and symptom-specific interventions. Despite advances in genetic diagnostics, CS remains a progressive and life-limiting disorder with no definitive treatment. To the best of our knowledge, this is the first genetically confirmed CSB case reported from Bahrain. It documents an ERCC6 p.Arg683* genotype presenting with a classical CSB phenotype and expands genotype–phenotype correlations in Arab populations. These findings emphasize the importance of early diagnosis by next-generation sequencing and genetic counseling to mitigate disease impact. Increased clinician awareness is essential for timely intervention and improved outcomes.