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CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics

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Abstract

Cerebral cavernous malformations are focal vascular lesions of the brain, occurring sporadically or as an autosomal dominant familial form. The genetic background influences not only the clinical course but also patients’ consultation and the indication to treat. We here present the rare case of monozygotic male twins of a polyzygotic triplet birth, carrying a CCM1 mutation, inherited from the mother. Both twins showed an identical site and size of a large frontobasal lesion. The genetic segregation and the clinical course in affected family members are presented and discussed.

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Authors and Affiliations

  1. Department of Neurosurgery, KRH Hospital Nordstadt, Haltenhoffstrasse 41, 30167, Hannover, Germany

    Karl Hartmann

  2. Department of Neurosurgery, Otto-von-Guericke-Universität Magdeburg, Leipziger Strasse 44, 39120, Magdeburg, Germany

    Karl Hartmann, Klaus-Peter Stein, Belal Neyazi & I. Erol Sandalcioglu

  3. Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Fleischmannstrasse 43, 17475, Greifswald, Germany

    Ute Felbor

  4. Department of Neuropediatrics, Kinderkrankenhaus auf der Bult, Janusz-Korczak-Allee 12, 30173, Hannover, Germany

    Sven Hethey

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  1. Karl Hartmann
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  2. Klaus-Peter Stein
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  4. Ute Felbor
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Correspondence to Karl Hartmann.

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Hartmann, K., Stein, KP., Neyazi, B. et al. CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics. Neurosurg Rev 42, 765–768 (2019). https://doi.org/10.1007/s10143-019-01124-1

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  • DOI: https://doi.org/10.1007/s10143-019-01124-1

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