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Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome

Authors

  • Farouq K. Ababneh,

    Corresponding author
    1. Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, Saudi Arabia
    • Correspondence to:

      Dr. Farouq K. Ababneh, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, P.O. Box 22490, Riyadh 11426, Saudi Arabia.

      E-mail: ababnehfa@ngha.med.sa

      Correspondence to:

      Dr. Mohammed A. AlBalwi, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, P.O. Box 22490, Riyadh 11426, Saudi Arabia.

      E-mail: balwim@ngha.med.sa

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  • Abdulrahman AlSwaid,

    1. Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, Saudi Arabia
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  • Talaat Youssef,

    1. Department of Radiology, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, Saudi Arabia
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  • Manaf Al Azzawi,

    1. Division of Plastic and Craniofacial Surgery, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, Saudi Arabia
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  • Andrew Crosby,

    1. Medical Genetics, St. George's University, London, UK
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  • Mohammed A. AlBalwi

    Corresponding author
    1. Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, Saudi Arabia
    2. College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
    3. Medical Biotechnology, King Abdullah International Medical Research Center, National Guard Health Affairs, Riyadh, Saudi Arabia
    • Correspondence to:

      Dr. Farouq K. Ababneh, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, P.O. Box 22490, Riyadh 11426, Saudi Arabia.

      E-mail: ababnehfa@ngha.med.sa

      Correspondence to:

      Dr. Mohammed A. AlBalwi, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, P.O. Box 22490, Riyadh 11426, Saudi Arabia.

      E-mail: balwim@ngha.med.sa

    Search for more papers by this author

  • Conflict of interest: none.

Abstract

Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C. Both parents were heterozygous for the deletion. Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges. In addition, he had wormian bones and pyriform aperture stenosis, features that are usually under diagnosed. It is clear that Raine syndrome has a wide range of expression and may not be lethal in the neonatal period. Furthermore, Raine cases due to whole gene deletion do not seem to have a major difference in the phenotype over those caused by various mutations. © 2013 Wiley Periodicals, Inc.

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