The Korean Journal of Medicine

  • 제87권6호
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  • Pages.738-742
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  • 2014
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  • 1738-9364(pISSN)
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  • 2289-0769(eISSN)
대한내과학회 (The Korean Association of Internal Medicine)
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COL2A1 유전자의 새로운 돌연변이에 의한 제1형 Stickler 증후군 1예

A Case of Type 1 Stickler Syndrome Caused by a Novel Mutation in COL2A1

  • 박동규 (인제대학교 의과대학 상계백병원 소아청소년과학교실) ;
  • 김신혜 (인제대학교 의과대학 상계백병원 소아청소년과학교실) ;
  • 이범희 (울산대학교 의과대학 서울아산병원 소아청소년병원 의학유전학센터) ;
  • 김구환 (울산대학교 의과대학 서울아산병원 소아청소년병원 의학유전학센터) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 소아청소년병원 의학유전학센터) ;
  • 박미정 (인제대학교 의과대학 상계백병원 소아청소년과학교실)
  • Park, Dong Kyu (Department of Pediatrics, Sanggye Paik Hospital, Inje University, College of Medicine) ;
  • Kim, Shin Hye (Department of Pediatrics, Sanggye Paik Hospital, Inje University, College of Medicine) ;
  • Lee, Beom Hee (Medical Genetics Center, Asan Medical Center, Children’s Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center, Children’s Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Medical Genetics Center, Asan Medical Center, Children’s Hospital, University of Ulsan College of Medicine) ;
  • Park, Mi Jung (Department of Pediatrics, Sanggye Paik Hospital, Inje University, College of Medicine)
  • 투고 : 2013.11.22
  • 심사 : 2014.04.22
  • 발행 : 2014.12.01
⟨ 이전 논문 다음 논문 ⟩

초록

Stickler 증후군은 안과적, 구강얼굴, 청각, 관절 증상을 특징으로 하는 유전 질환이다. 저자들은 납작한 얼굴, 고도근시, 망박박리로 인한 실명, 저신장을 보이는 Stickler 증후군 환자에서 COL2A1 유전자의 새로운 돌연변이를 발견하여 문헌고찰과 함께 보고하는 바이다.

Stickler syndrome is a genetic disorder characterized by ophthalmologic, craniofacial, audiologic, and joint problems. In this report, we describe a 10-year-old boy presenting with a flat face, high myopia, retinal detachment, arthropathy, short stature, and mental retardation. Sequencing of the COL2A1 gene revealed a novel mutation, c.3055C > T (p.Pro1019Ser), consistent with a diagnosis of Type 1 Stickler Syndrome.

키워드

참고문헌

  1. Stickler GB, Belau PG, Farrell FJ, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965;40:433-455.
  2. Couchouron T, Masson C. Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. Joint Bone Spine 2011;78:45-49. https://doi.org/10.1016/j.jbspin.2010.03.012
  3. Lee J, Jung CW, Kim GH, Lee BH, Choi JH, Yoo HW. A case of Stickler syndrome type I caused by a novel variant of COL2A1 gene. J Genet Med 2011;8:125-129. https://doi.org/10.5734/JGM.2011.8.2.125
  4. Van Camp G, Snoeckx RL, Hilgert N, et al. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet 2006;79:449-457. https://doi.org/10.1086/506478
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  7. Liberfarb RM, Levy HP, Rose PS, et al. The stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genet Med 2003;5:21-27. https://doi.org/10.1097/00125817-200301000-00004
  8. Liberfarb RM, Goldblatt A. Prevalence of mitral-valve prolapse in the Stickler syndrome. AM J Med Genet 1986;24:387-392. https://doi.org/10.1002/ajmg.1320240302
  9. Popkin JS, Polomeno RC. Stickler's syndrome(hereditary progressive arthro-ophthalmopathy. Can Med Assoc J 1974;111:1071-1076.
  10. Hoornaert KP, Vereecke I, Dewinter C, et al. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet 2010;18:872-880. https://doi.org/10.1038/ejhg.2010.23

피인용 문헌

  1. Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea vol.36, pp.2, 2014, https://doi.org/10.3343/alm.2016.36.2.166