Genetics of Cockayne Syndrome Follow-up

  • Author: David Flannery, MD, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Nov 24, 2009
 

Further Inpatient Care

  • Use of a gastrostomy tube may prevent malnutrition in patients with Cockayne syndrome (CS) who feed poorly.
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Further Outpatient Care

  • Monitor patients for hypertension, renal function, hearing loss, and dental caries.
  • Physical therapy delays the onset of joint contractures.
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Transfer

  • Consider transfer or referral to a facility with expertise in cultured skin fibroblasts because very few laboratory personnel have expertise in this technique.
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Deterrence/Prevention

  • Advise patients to avoid excessive sun exposure and to use sunscreen liberally when outdoors.
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Complications

  • Growth failure
  • Progressive pigmentary retinopathy
  • Sensorineural hearing loss
  • Joint contractures and ataxia
  • Hypertension
  • Photosensitivity
  • Premature death
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Prognosis

  • Cockayne syndrome type 1 (CNK1) is an autosomal recessive disorder resulting in growth failure and progressive neurologic dysfunction.
  • Death usually occurs during adolescence, but survival into adulthood is possible.
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Patient Education

  • Recommend genetic counseling because each sibling subsequently born to the parents of an affected child will have a 25% risk of having CNK1.
  • Cultured cells obtained from patients with Cockayne syndrome are hypersensitive to the lethal effects of UV. Also, the normal recovery in DNA and RNA synthesis after UV exposure does not occur in those cells. Measuring RNA synthesis and the secondary DNA synthesis of cultured amniocytes after irradiation with UV light has been successful in the prenatal diagnosis of Cockayne syndrome. Prenatal diagnosis based on molecular analysis in future pregnancies may also be possible if the mutations in the affected child are known.[2]
  • Advise parents that treatment is supportive and based on symptoms.
  • Optimize neurologic and neurosensory abilities in the patient.
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Contributor Information and Disclosures
Author

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Elaine H Zackai, MD  Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia

Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American College of Medical Genetics, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Laugel V, Dalloz C, Durand M, et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. Nov 5 2009;[Medline].

  2. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline].

  3. Cao H, Williams C, Carter M, Hegele RA. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. J Hum Genet. 2004;49(1):61-3. [Medline].

  4. Chien YH, Chou HC, Hwu WL. Cockayne syndrome in a family. Acta Paediatr Taiwan. Jan-Feb 2002;43(1):46-9. [Medline].

  5. Cleaver JE, Thompson LH, Richardson AS, States JC. A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat. 1999;14(1):9-22. [Medline].

  6. Greenhaw GA, Hebert A, Duke-Woodside ME, et al. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet. Apr 1992;50(4):677-89. [Medline].

  7. Higginbottom MC, Griswold WR, Jones KL, et al. The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology. Pediatrics. Dec 1979;64(6):929-34. [Medline].

  8. Kleijer WJ, van der Sterre ML, Garritsen VH. Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience. Prenat Diagn. Oct 2006;26(10):980-4. [Medline].

  9. Lehmann AR, Francis AJ, Giannelli F. Prenatal diagnosis of Cockayne's syndrome. Lancet. Mar 2 1985;1(8427):486-8. [Medline].

  10. Mathur R, Chowdhury MR, Singh G. Recent advances in chromosome breakage syndromes and their diagnosis. Indian Pediatr. Jun 2000;37(6):615-25. [Medline].

  11. Moyer DB, Marquis P, Shertzer ME, Burton BK. Cockayne syndrome with early onset of manifestations. Am J Med Genet. Oct 1982;13(2):225-30. [Medline].

  12. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet. Jan 1 1992;42(1):68-84. [Medline].

  13. Proops R, Taylor AM, Insley J. A clinical study of a family with Cockayne's syndrome. J Med Genet. Aug 1981;18(4):288-93. [Medline].

  14. Rapin I, Weidenheim K, Lindenbaum Y. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J Child Neurol. Nov 2006;21(11):991-1006. [Medline].

  15. Ren Y, Saijo M, Nakatsu Y, et al. Three novel mutations responsible for Cockayne syndrome group A. Genes Genet Syst. Feb 2003;78(1):93-102. [Medline].

  16. Sugita T, Ikenaga M, Suehara N, et al. Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells. Clin Genet. Sep 1982;22(3):137-42. [Medline].

  17. Tan WH, Baris H, Robson CD, Kimonis VE. Cockayne syndrome: the developing phenotype. Am J Med Genet A. Jun 1 2005;135(2):214-6. [Medline].

  18. Traboulsi EI, De Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol. Nov 15 1992;114(5):579-83. [Medline].

  19. Venema J, Mullenders LH, Natarajan AT, et al. The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci U S A. Jun 1990;87(12):4707-11. [Medline].

 
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Autosomal recessive inheritance pattern.
 
 
 
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