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A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers–Danlos syndrome

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Abstract

Vascular type of Ehlers–Danlos syndrome (EDS) is the most severe type of EDS. It is an autosomal dominantly inherited disorder that results from mutations within the α1 type III collagen gene (COL3A1). We report a novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of EDS. Since the age of approximately 8 months, the patient had had repeated episodes of purpura and gradually developed thin, translucent skin. She had a past history of pneumothorax. At the initial examination, she was found to have the characteristic facies, i.e., bird-like face, of the vascular type of EDS, thinning of skin over the limbs and trunk, and scattered purpura. The blood vessels under the skin could be clearly visualized. She showed hypermobility of the small joints of all the four limbs and acrogeric changes of the hands and feet. Analysis of the amount of collagen synthesized from cultured dermal fibroblasts by SDS-polyacrylamide gel electrophoresis and fluorography was conducted based on the clinical suspicion of the vascular type of EDS, and a marked reduction in the synthesis of type III collagen was observed. Genetic analysis of the COL3A1 revealed a novel point mutation at the donor splice-site of intron 42, which resulted in the inclusion of 30 nucleotides into the mature mRNA of one allele.

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Acknowledgments

We thank Miyuki Funakoshi and Takashi Namatame for their technical assistance.

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Authors and Affiliations

  1. Department of Dermatology, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Tochigi, 321-0293, Japan

    Hiroshi Okita, Hiromi Namikawa, Yohei Kitamura, Yoichiro Hamasaki, Soji Yamazaki & Atsushi Hatamochi

  2. Department of Surgery, Utsunomiya Kinen Hospital, Utsunomiya, Tochigi, Japan

    Yasunori Ikeda

  3. Department of Dermatology, Tokyo Medical University, Tokyo, Japan

    Yoshihiko Mitsuhashi

Authors
  1. Hiroshi Okita
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  2. Yasunori Ikeda
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  3. Yoshihiko Mitsuhashi
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  4. Hiromi Namikawa
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  5. Yohei Kitamura
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  6. Yoichiro Hamasaki
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  7. Soji Yamazaki
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  8. Atsushi Hatamochi
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Correspondence to Atsushi Hatamochi.

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Okita, H., Ikeda, Y., Mitsuhashi, Y. et al. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers–Danlos syndrome. Arch Dermatol Res 302, 395–399 (2010). https://doi.org/10.1007/s00403-009-0970-6

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  • DOI: https://doi.org/10.1007/s00403-009-0970-6

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