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A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B
  1. Anas M Alazami1,
  2. Amal Y Kentab2,
  3. Eissa Faqeih3,
  4. Jawahir Y Mohamed1,
  5. Hisham Alkhalidi4,
  6. Hadia Hijazi1,
  7. Fowzan S Alkuraya1,5
  1. 1Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  2. 2Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  3. 3Department of Pediatric SubSpecialty, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
  4. 4Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  5. 5Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  1. Correspondence to Dr Fowzan S Alkuraya, Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyadh 11211, Saudi Arabia; falkuraya{at}


Background Klippel-Feil anomaly (KFA) can be seen in a number of syndromes. We describe an apparently novel syndromic association with KFA.

Methods Clinical phenotyping of two consanguineous families followed by combined autozygome/exome analysis.

Results Two patients from two apparently unrelated families shared a strikingly similar phenotype characterised by KFA, myopathy, mild short stature, microcephaly, and distinctive facies. They shared a single founder autozygous interval in which whole exome sequencing revealed a truncating mutation in MYO18B. There was virtually complete loss of the transcript in peripheral blood, indicative of nonsense-mediated decay. Electron microscopy of muscle confirms abnormal myosin filaments with accompanying myopathic changes.

Conclusions Deficiency of MYO18B is linked to a novel developmental disorder which combines KFA with myopathy. This suggests a widespread developmental role for this gene in humans, as observed for its murine ortholog.

  • Myosin
  • Somite
  • exome
  • myopathy

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