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<p>Here we report an 18-year-old male patient with bilateral ectopia lentis and biallelic <i>CPAMD8</i> variants (NM_015692.5:c.[2801delG];[4552C&gt;T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]). He exhibited previously unreported extraocular features, including a slender build, scoliosis, arachnodactyly and positive thumb sign and wrist sign, which is reminiscent of Marfan syndrome. These findings may suggest that CPAMD8-related disorder is a syndromic condition associated with extraocular systemic features similar to those seen in Marfan syndrome.</p>

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Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月27日

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  • Daiju Oba,
  • Mariko Sagara,
  • Sayuri Oda,
  • Miyu Fukushima,
  • Kenta Hasumi,
  • Hirofumi Ohashi

摘要

Here we report an 18-year-old male patient with bilateral ectopia lentis and biallelic CPAMD8 variants (NM_015692.5:c.[2801delG];[4552C>T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]). He exhibited previously unreported extraocular features, including a slender build, scoliosis, arachnodactyly and positive thumb sign and wrist sign, which is reminiscent of Marfan syndrome. These findings may suggest that CPAMD8-related disorder is a syndromic condition associated with extraocular systemic features similar to those seen in Marfan syndrome.