GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

Authors

  • Namik Kaya,

    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Search for more papers by this author
  • Mohammad Al- Owain,

    1. Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    2. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
    Search for more papers by this author
  • Nada AbuDheim,

    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Search for more papers by this author
  • Jawaher Al- Zahrani,

    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    2. Department of Zoology, King Saud University, Riyadh, Saudi Arabia
    Search for more papers by this author
  • Dilek Colak,

    1. Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Search for more papers by this author
  • Moeen Al- Sayed,

    1. Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Search for more papers by this author
  • Aysel Milanlioglu,

    1. Department of Neurology, Faculty of Medicine, Yuzuncu Yil University, Van, Turkey
    Search for more papers by this author
  • Pinar T. Ozand,

    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Current affiliation:
    1. Duzen Laboratories, Mecidiyekoy, Istanbul, Turkey.
    Search for more papers by this author
  • Fowzan S. Alkuraya

    Corresponding author
    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    2. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
    3. Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia
    • Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC 03, PO Box 3354, Riyadh 11211 Saudi Arabia.
    Search for more papers by this author

  • How to Cite this Article: Kaya N, Al-Owain M, AbuDheim N, Al-Zahrani J, Colak D, Al-Sayed M, Milanlioglu A, Ozand PT, Alkuraya FS. 2011. GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening. Am J Med Genet Part A 155:1281–1284.

Abstract

The GM2 gangliosidose, Tay–Sachs and Sandhoff diseases, are a class of lysosomal storage diseases in which relentless neurodegeneration results in devastating neurological disability and premature death. Primary prevention is the most effective intervention since no effective therapy is currently available. An extremely successful model for the prevention of GM2 gangliosidosis in the Ashkenazi Jewish community is largely attributable to the very limited number of founder mutations in that population. Consistent with our previous observation of allelic heterogeneity in consanguineous populations, we show here that these diseases are largely caused by private mutations which present a major obstacle in replicating the Ashkenazi success story. Alternative solutions are proposed which can also be implemented for other autosomal recessive diseases in our population. © 2011 Wiley-Liss, Inc.

Ancillary