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<p>Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is a rare autosomal dominant condition that has demonstrated diverse phenotypes. This is the second case report published on this condition, covering the disease history of an 8 year old patient with a severe manifestation of the disease. The patient was born with hydrocephalus, and demonstrated major developmental delay as he aged. Whole-genome sequencing of the patient and his parents was conducted, detecting a <i>de novo</i> variant, NM_001378974.1:c.1220&#xa0;A &gt; T [p.Lys407Ile], located in the conserved WD4 region of the WD40 domain of <i>FBXW11</i>, which is consistent with all previously reported patients. The phenotype of the patient is presented with a focus on MRI and EEG features, including images and detailed description for both. While the patient’s phenotype is overall consistent with previous findings, there are a number of major factors we believe are caused by the <i>FBXW11</i> variant that have not been previously described, such as the patient’s complete inability to walk.</p>

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A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome

  • 期刊论文

  • 发表日期：

    2025年4月3日

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  • Anna Maznina,
  • Daria Molodtsova-Zolotukhina,
  • Nina Andreeva,
  • Anton Esibov,
  • Fatima M. Bostanova,
  • Artem Sharkov,
  • Natalya A. Doroshchuk,
  • Olesya V. Sagaydak,
  • Olga S. Groznova,
  • Mary Woroncow,
  • Viktor P. Bogdanov,
  • Pavel Y. Volchkov

摘要

Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is a rare autosomal dominant condition that has demonstrated diverse phenotypes. This is the second case report published on this condition, covering the disease history of an 8 year old patient with a severe manifestation of the disease. The patient was born with hydrocephalus, and demonstrated major developmental delay as he aged. Whole-genome sequencing of the patient and his parents was conducted, detecting a de novo variant, NM_001378974.1:c.1220 A > T [p.Lys407Ile], located in the conserved WD4 region of the WD40 domain of FBXW11, which is consistent with all previously reported patients. The phenotype of the patient is presented with a focus on MRI and EEG features, including images and detailed description for both. While the patient’s phenotype is overall consistent with previous findings, there are a number of major factors we believe are caused by the FBXW11 variant that have not been previously described, such as the patient’s complete inability to walk.