Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지
DOI QR코드

DOI QR Code

Two cases of Smith-Magenis syndrome

Smith-Magenis 증후군 2예

  • Jung, Seong Kwan (Department of Pediatrics, Korea University College of Medicine) ;
  • Park, Kyu Hee (Department of Pediatrics, Korea University College of Medicine) ;
  • Shin, Hae Kyung (Department of Pediatrics, Korea University College of Medicine) ;
  • Eun, So Hee (Department of Pediatrics, Korea University College of Medicine) ;
  • Eun, Baik-Lin (Department of Pediatrics, Korea University College of Medicine) ;
  • Yoo, Kee Hwan (Department of Pediatrics, Korea University College of Medicine) ;
  • Hong, Young Sook (Department of Pediatrics, Korea University College of Medicine) ;
  • Lee, Joo Won (Department of Pediatrics, Korea University College of Medicine) ;
  • Bae, Sook Young (Department of Laboratory Medicine, Korea University College of Medicine)
  • 정성관 (고려대학교 의과대학 소아과학교실) ;
  • 박규희 (고려대학교 의과대학 소아과학교실) ;
  • 신혜경 (고려대학교 의과대학 소아과학교실) ;
  • 은소희 (고려대학교 의과대학 소아과학교실) ;
  • 은백린 (고려대학교 의과대학 소아과학교실) ;
  • 유기환 (고려대학교 의과대학 소아과학교실) ;
  • 홍영숙 (고려대학교 의과대학 소아과학교실) ;
  • 이주원 (고려대학교 의과대학 소아과학교실) ;
  • 배숙영 (고려대학교 의과대학 진단검사의학교실)
  • Received : 2009.01.03
  • Accepted : 2009.02.05
  • Published : 2009.06.15
Download PDF
⟨ Previous Next ⟩

Abstract

SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies, speech and developmental delay, and sleep disturbances. Although there are some intervention strategies that help individuals with SMS, there are no reported specific interventions for improving the outcome in children with SMS. Here, we report two cases of SmithMagenis syndrome.

Smith-Magenis 증후군(SMS)은 17번 염색체에서 유전물질을 향유한 곳이 일부 떨어져 나가면서 생기는 질환으로, 신체, 발달 및 행동상의 특징적 이상이 나타나는 질환이다. 출생빈도는 출생아 25,000명 중에 한 명 꼴로 출생하는 것으로 알려져 있으나 최근 분자유전학적 진단 기술의 발달로 이 질환의 환자수가 점차 증가되고 있다. 다양한 임상증상과 더불어 수면장애, 경련에 대한 치료뿐만 아니라 적절한 언어, 행동학적 치료가 필요하다. 저자들은 SMS 환아 2예를 진단하고 치료하고 있는 경험이 있어 이를 보고하는 바이다.

Keywords

References

  1. Gropman AL, Elsea S, Duncan WC, Jr., Smith AC. New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol 2007;20:125-34 https://doi.org/10.1097/WCO.0b013e3280895dba
  2. Smith AC, McGavran L, Waldstein G, Robinson J Deletion of the 17 short arm in two patients with facial clefts and congenital heart disease. Am J Hum Genet 1982;34:146A
  3. Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 1986;24:393-414 https://doi.org/10.1002/ajmg.1320240303
  4. Gropman AL, Smith ACM, Allanson JE, Greenberg F. Smith-Magenis syndrome:aspects of the infant phenotype. Am J Hum Genet 1998;63:A19
  5. Smith AC, Magenis RE, Elsea SH. Overview of Smith- Magenis syndrome. J Assoc Genet Technol 2005;31:163-7
  6. Deborah J. Fidler, Amy D. Philofsky, Susan L. Hepburn, A case study of early development in Smith-Magenis syndrome, Focus Autism Other Dev Disabl 2006;21:130-7 https://doi.org/10.1177/10883576060210030101
  7. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 1996;62:247- 54 https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q
  8. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 1996;62:247- 54 https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q
  9. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, et al. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996;58:998-1007
  10. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, et al. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996;58:998-1007
  11. Carpizo R, Martinez A, Mediavilla D, Gonzalez M, Abad A, Sanchez-Barcelo EJ. Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin. J Pediatr 2006;149:409-11 https://doi.org/10.1016/j.jpeds.2006.04.055
  12. Gropman AL, Duncan WC, Smith AC. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol 2006;34:337-50 https://doi.org/10.1016/j.pediatrneurol.2005.08.018
  13. Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 2003;5:430-4 https://doi.org/10.1097/01.GIM.0000095625.14160.AB
  14. Vlangos CN, Yim DK, Elsea SH. Refinement of the Smith- Magenis syndrome critical region to approximately 950 kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab 2003;79:134-41 https://doi.org/10.1016/S1096-7192(03)00048-9

Cited by

  1. Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome vol.27, pp.12, 2009, https://doi.org/10.3346/jkms.2012.27.12.1586
  2. A Case of Smith-Magenis Syndrome with Multiple Organ Malformations vol.24, pp.1, 2009, https://doi.org/10.5385/nm.2017.24.1.49
  3. Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification vol.8, pp.2, 2018, https://doi.org/10.3343/lmo.2018.8.2.71