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Genetics of Cockayne Syndrome Medication

  • Author: David Flannery, MD, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
 
Updated: Nov 16, 2015
 
 

Medication Summary

Drug therapy currently is not a component of the standard of care for patients with Cockayne syndrome (CS) (see Treatment).

 
 
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, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

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, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

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 Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

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

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

  20. 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. 1982 Sep. 22(3):137-42. [Medline].

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  23. 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. 1990 Jun. 87(12):4707-11. [Medline].

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Autosomal recessive inheritance pattern.
 
 
 
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