Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
권호 표지
DOI QR코드

DOI QR Code

A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene

COL2A1 유전자의 새로운 돌연변이에 의한 제 1형 Stickler 증후군으로 진단된 1례

  • Lee, Jin (Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Jung, Chang-Woo (Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, 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) ;
  • Lee, Beom-Hee (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Choi, Jin-Ho (Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 이진 (서울아산병원 소아청소년병원 내분비대사과) ;
  • 정창우 (서울아산병원 소아청소년병원 내분비대사과) ;
  • 김구환 (서울아산병원 소아청소년병원 의학유전학센터) ;
  • 이범희 (서울아산병원 소아청소년병원 의학유전학센터) ;
  • 최진호 (서울아산병원 소아청소년병원 내분비대사과) ;
  • 유한욱 (서울아산병원 소아청소년병원 내분비대사과)
  • Received : 2011.11.28
  • Accepted : 2011.12.16
  • Published : 2011.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity of the epiphysis of the femur and tibia and spondyloepiphyseal dysplasia. Genetic analysis using a peripheral blood sample revealed a novel variant c.787G>A (p.Gly246Asp) mutation of the COL2A1 gene. This is the first Korean case with Stickler syndrome confirmed by genetic testing.

저자들은 고도근시, 망막이상, 납작한콧등, 구개열, 하악후퇴, 소하악증, 저신장, 양쪽 손가락의 관절구축증(arthrogryposis)이 있고, 방사선 검사상 불규칙한 대퇴골과 경골의 골단면, 척추골단이형성증이 보이는 Stickler 증후군 환자 1례에서 COL2A1 유전자의 새로운 돌연변이를 국내 최초로 증명하였기에 문헌고찰과 함께 보고하는 바이다.

Keywords

References

  1. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG,Steinberg AG, et al. Hereditary Progressive Arthro- Ophthalmopathy. Mayo Clin Proc 1965;40:433-55.
  2. Stickler GB, Hughes W, Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. Genet Med 2001;3:192-6. https://doi.org/10.1097/00125817-200105000-00008
  3. Snead MP, Yates JR. Clinical and Molecular genetics of Stickler syndrome. J Med Genet 1999;36:353-9.
  4. Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, et al. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet 1996;63:461-7. https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U
  5. Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, et al. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet 1996;5:1339-43. https://doi.org/10.1093/hmg/5.9.1339
  6. Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995;80:431-7. https://doi.org/10.1016/0092-8674(95)90493-X
  7. Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, et al. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet 2006;79:449-57. https://doi.org/10.1086/506478
  8. Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, et al. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A 2011;155A:1668-72.
  9. Snead MP, Payne SJ, Barton DE, Yates JR, al-Imara L,Pope FM, et al. Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1. Eye 1994;8:609-14. https://doi.org/10.1038/eye.1994.153
  10. Richards AJ, Laidlaw M, Whittaker J, Treacy B, Rai H, Bearcroft P, et al. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. Hum Mutat 2006;27:696-704. https://doi.org/10.1002/humu.20347
  11. Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr 1994;153:56-65.
  12. Printzlau A, Andersen M. Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J 2004;41:47-52. https://doi.org/10.1597/02-055
  13. Lee DE, Kim IT. Stickler's syndrome. J Korean Ophthalmol Soc 1996;37:559-63.
  14. ES L, JA K, GY J, HS C, SH P. A Case of Stickler Syndrome with Large Eyeballs. J Korean Soc Neonatol 1998;5: 242-7.
  15. YH C, YS S, SY L, HJ P, GS C, BH H. An anesthetic experience in a patient with Stickler sydrome: A case report. Anesth Pain Med 2011;6:85-8.
  16. Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, et al. The phenotypic spectrum of COL2A1 mutations. Hum Mutat 2005;26:36-43. https://doi.org/10.1002/humu.20179
  17. Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, et al. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet 2010;18: 872-80. https://doi.org/10.1038/ejhg.2010.23