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International Journal of Molecular Medicine
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Print ISSN: 1107-3756 Online ISSN: 1791-244X
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April 2006 Volume 17 Issue 4

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Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

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Medicine International

An International Open Access Journal Devoted to General Medicine.

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Article

Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia

  • Authors:
    • Loukas Argyriou
    • Stefan Twelkemeyer
    • Irakli Panchulidze
    • Lars-Erik Wehner
    • Ute Teske
    • Wolfgang Engel
    • Karim Nayernia

  • View Affiliations / Copyright

    Affiliations: Institute of Human Genetics, Georg-August University, 37073 Göttingen, Germany
  • Pages: 655-659
    |
    Published online on: April 1, 2006
       https://doi.org/10.3892/ijmm.17.4.655
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Abstract

Hereditary haemorrhagic teleangiectasia (HHT) is an autosomal dominantly inherited disorder characterised by cutaneous and mucosal telangiectasias, epistaxis and arteriovenous malformations in lung, liver, central nervous system and gastrointestinal tract. Mutations in the genes for endoglin (ENG) and for activin A receptor type II-like kinase 1 (ACVRL1) have been identified to cause HHT. We performed molecular diagnosis in clinically affected probands of 52 HHT families and detected mutations in 34 cases. We report on a total of 19 novel disease-causing mutations, 7 in ENG and 12 in ACVRL1. Three of the novel mutations affected acceptor splice-sites in the ENG gene. RNA analyses in these three patients and in two further patients described before resulted in reduction of the transcript or in a shortened transcript. Furthermore, we identified a family with the mutation c.199C>T in the ACVRL1 gene with liver AVMs. This is the fifth family with this mutation and liver AVMs, clearly indicating a genotype-phenotype correlation for this mutation.

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Copy and paste a formatted citation
Spandidos Publications style
Argyriou L, Twelkemeyer S, Panchulidze I, Wehner L, Teske U, Engel W and Nayernia K: Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. Int J Mol Med 17: 655-659, 2006.
APA
Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L., Teske, U., Engel, W., & Nayernia, K. (2006). Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. International Journal of Molecular Medicine, 17, 655-659. https://doi.org/10.3892/ijmm.17.4.655
MLA
Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L., Teske, U., Engel, W., Nayernia, K."Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia". International Journal of Molecular Medicine 17.4 (2006): 655-659.
Chicago
Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L., Teske, U., Engel, W., Nayernia, K."Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia". International Journal of Molecular Medicine 17, no. 4 (2006): 655-659. https://doi.org/10.3892/ijmm.17.4.655
Copy and paste a formatted citation
x
Spandidos Publications style
Argyriou L, Twelkemeyer S, Panchulidze I, Wehner L, Teske U, Engel W and Nayernia K: Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. Int J Mol Med 17: 655-659, 2006.
APA
Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L., Teske, U., Engel, W., & Nayernia, K. (2006). Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. International Journal of Molecular Medicine, 17, 655-659. https://doi.org/10.3892/ijmm.17.4.655
MLA
Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L., Teske, U., Engel, W., Nayernia, K."Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia". International Journal of Molecular Medicine 17.4 (2006): 655-659.
Chicago
Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L., Teske, U., Engel, W., Nayernia, K."Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia". International Journal of Molecular Medicine 17, no. 4 (2006): 655-659. https://doi.org/10.3892/ijmm.17.4.655
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