Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Case of Vascular Ehlers-Danlos Syndrome with Novel Mutation c.2931+2dupT in COL3A1 Gene

COL3A1 유전자의 새로운 돌연변이 c.2931+2dupT가 확인된 혈관형 엘러스-단로스 증후군 1례

  • Yoon, You Min (Department of Pediatrics, Hallym Sacred Heart Hospital) ;
  • Kim, Dong Chan (Department of Pediatrics, Hallym Sacred Heart Hospital) ;
  • Kang, Min Jae (Department of Pediatrics, Hallym Sacred Heart Hospital)
  • 윤유민 (한림대학교성심병원 소아청소년과) ;
  • 김동찬 (한림대학교성심병원 소아청소년과) ;
  • 강민재 (한림대학교성심병원 소아청소년과)
  • Published : 2014.12.25
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Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disorder caused by a mutation of the type III collagen (COL3A1). The manifestation of vEDS can be seen in skin, joints, blood vessels, and internal organs. The diagnosis of vEDS often is missed until the patient presents with a life-threatening complication such as spontaneous arterial rupture or bowel perforation. We report a 16-year-old male who had recurrent right thigh hematoma after simple exercise and minor trauma, respectively. He had a history of surgery due to spontaneous colon perforation at his age of 11 years. Gene test of COL3A1 revealed a novel mutation c.2931+dupT.

혈관형 엘러스-단로스 증후군은 상염색체 우성 유전질환으로 COL3A1 유전자의 돌연변이로 인해 제 3형 콜라겐 합성이 결핍되면서 피부, 관절, 혈관, 폐, 내장 등에서 증상이 나타나는데 생명에 위협이 되는 합병증인 동맥 파열이나 장 천공과 같이 발생한 뒤에 진단이 늦게 내려지는 경우가 많다. 본 증례는 11세에 장천공 및 복막염의 수술력이 있는 16세 남아가 각각 운동과 경미한 손상 이후 발생한 두 차례의 근혈종으로 내원하여 시행한 COL3A1 유전자 검사에서 새로운 돌연변이 c.2931+2dupT가 발견되어 보고하는 바이다.

Keywords

References

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