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Clinical and molecular studies of EXT1/EXT2 in Bulgaria

  • CDG - an update
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Journal of Inherited Metabolic Disease

Abstract

EXT1/EXT2-CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O-xylosylglycan glycosylation. The diagnostic criteria are at least two osteochondromas of the juxta-epiphyseal region of long bones with in the majority of cases a positive family history and/or mutation in one of the EXT genes. The authors report data on clinical symptoms and complications of 23 patients (from 16 families), discussing the family history, age of diagnosis, new clinical and molecular data. Fifteen mutations and large deletions, of which nine are new, were detected in the EXT1 and EXT2 gene by sequence analysis, FISH and MLPA analysis.

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Acknowledgements

This work was supported by EU project EUROGLYCANET (European Network for the advancement of research, diagnosis and treatment of a growing group of rare disorders) 512131/ 01.01-2005-31.12. 2007 and Research project R14-D/ 27.07.09-27.07. 2010, Medical University-Sofia entitled “Screening for congenital disorders of glycosylation”. The Department of Medical Genetics of Antwerp is a partner of the EuroBoNeT consortium, a European Commission granted Network of Excellence for studying the pathology and genetics of bone tumours.

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Authors and Affiliations

  1. Department of Pediatrics, Medical University of Sofia, University Children’s Hospital “Alexandrovska”, 1, St. G. Sofiyski, 1431, Sofia, Bulgaria

    Malina Kirilova Stancheva-Ivanova

  2. Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium

    Wim Wuyts & Els van Hul

  3. Department of Pediatrics, University Children’s Hospital “St. Evdokia”, Sofia, Bulgaria

    Briguita Ivanova Radeva

  4. University Hospital of Obstetrics and Gynecology “Majchin dom”, National Genetic Laboratory, Sofia, Bulgaria

    Radoslava Vasileva Vazharova & Ivo Marinov Kremensky

  5. Department of Orthopedics, University Hospital of Orthopedics and Traumatology “Prof. Dr. Boicho Boichev”, Sofia, Bulgaria

    Todor Petrov Sokolov & Borislav Yordanov Vladimirov

  6. Medical and Biological Research Laboratory “Roumen Tsanev” Institute of Molecular Biology, Bulgarian Academy of Sciences, Sofia, Bulgaria

    Margarita Dimitrova Apostolova

Authors
  1. Malina Kirilova Stancheva-Ivanova
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  2. Wim Wuyts
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  3. Els van Hul
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  4. Briguita Ivanova Radeva
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  5. Radoslava Vasileva Vazharova
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  6. Todor Petrov Sokolov
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  7. Borislav Yordanov Vladimirov
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  8. Margarita Dimitrova Apostolova
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  9. Ivo Marinov Kremensky
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Corresponding author

Correspondence to Malina Kirilova Stancheva-Ivanova.

Additional information

Communicated by: Eva Morava

Competing interest: None declared.

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Stancheva-Ivanova, M.K., Wuyts, W., van Hul, E. et al. Clinical and molecular studies of EXT1/EXT2 in Bulgaria. J Inherit Metab Dis 34, 917–921 (2011). https://doi.org/10.1007/s10545-011-9314-8

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  • DOI: https://doi.org/10.1007/s10545-011-9314-8

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