Human Genetics

, Volume 107, Issue 1, pp 12–17

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

  • Anthi Drousiotou
  • Goula Stylianidou
  • Violetta Anastasiadou
  • George Christopoulos
  • Eleni Mavrikiou
  • Theodoros Georgiou
  • Gabriel Kalakoutis
  • Adebayo Oladimeji
  • Yoji Hara
  • Kunihiko Suzuki
  • Kenichi Furihata
  • Ichiro Ueno
  • Panayiotis A. Ioannou
  • Anthony H. Fensom
Original Investigation

DOI: 10.1007/s004390000324

Cite this article as:
Drousiotou, A., Stylianidou, G., Anastasiadou, V. et al. Hum Genet (2000) 107: 12. doi:10.1007/s004390000324

Abstract.

In the last 15 years, four patients with the infantile form of Sandhoff disease were diagnosed in four different families in Cyprus (population 703,000, birth rate 1.7%). Three of these cases came from the Christian Maronite community (less than 1% of the population) and one from the Greek community (84% of the population). This relatively large number of patients prompted us to initiate an epidemiological study in order to establish the frequency of the mutant allele in Cyprus. Carrier detection was initially based on the measurement of β-hexosaminidase A and B in both leucocytes and serum. Using the enzyme test, 35 carriers were identified among 244 random Maronite samples and 15 among 28 Maronites with a family history of Sandhoff disease, but only one carrier was found out of 115 random samples from the Greek community. In parallel to the biochemical screening, DNA studies were undertaken in one of the three Maronite patients and in a Greek carrier related to the Greek patient. These studies resulted in the identification of two novel mutations, a deletion of A at nt76 and a G to C transversion at position 5 of the 5'-splice site of intron 8, which have been published. We subsequently screened the carriers detected in the biochemical study for these two mutations using PCR-based tests. Of 50 Maronite carriers examined, 42 were found to have the nt76 deletion. Eight Maronite samples, designated carriers from the biochemical results, were negative for both mutations. It is possible that these individuals were incorrectly classified as carriers since their enzyme values are equivocal, although the presence of another mutation has not been excluded. Two Greek Cypriot carriers and two obligate Lebanese carriers were negative for both mutations. We conclude that there is a high frequency of Sandhoff disease carriers in the Maronite community of Cyprus, approximately 1 in 7, and that a single mutation predominates in this population.

Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Anthi Drousiotou
    • 1
  • Goula Stylianidou
    • 2
  • Violetta Anastasiadou
    • 1
  • George Christopoulos
    • 1
  • Eleni Mavrikiou
    • 1
  • Theodoros Georgiou
    • 1
  • Gabriel Kalakoutis
    • 2
  • Adebayo Oladimeji
    • 3
  • Yoji Hara
    • 4
  • Kunihiko Suzuki
    • 4
  • Kenichi Furihata
    • 5
  • Ichiro Ueno
    • 5
  • Panayiotis A. Ioannou
    • 1
  • Anthony H. Fensom
    • 3
  1. 1.The Cyprus Institute of Neurology and Genetics, P.O. Box 3462, Nicosia, Cyprus
  2. 2.Archbishop Makarios III Hospital, Nicosia, Cyprus
  3. 3.Division of Medical and Molecular Genetics, Guy's Hospital, London, SE1 9RT, UK
  4. 4.Neuroscience Center, CB No.7250, Departments of Psychiatry and Neurology, University of North Carolina, Chapel Hill, NC 27599, USA
  5. 5.Division of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan

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