Genetics of Cockayne Syndrome Treatment & Management

1. McKusick VA. Genetics and dermatology or if I were to rewrite Cockayne's Inherited Abnormalities of the Skin. J Invest Dermatol. 1973 Jun. 60 (6):343-59. [Medline]. [Full Text].

2. Wilson BT, Stark Z, Sutton RE, et al. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med. 2016 May. 18 (5):483-93. [Medline]. [Full Text].

3. Kubota M, Ohta S, Ando A, et al. Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis. Pediatr Int. 2015 Jun. 57 (3):339-47. [Medline].

4. Laugel V. Cockayne syndrome. GeneReviews-NCBI Bookshelf. Updated 2019 Aug 29. [Medline]. [Full Text].

5. Khayat M, Hardouf H, Zlotogora J, Shalev SA. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. Am J Med Genet A. 2010 Dec. 152A(12):3091-4. [Medline].

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

7. Zhang H, Gao J, Ye J, Gong Z, Gu X. Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome. Eur J Med Genet. 2011 Jul-Aug. 54(4):e389-93. [Medline].

Reem Saadeh-Haddad, MD Associate Professor, Clinical Geneticist, Department of Pediatrics and Medicine, MedStar Georgetown University Hospital; Clinical Geneticist, Department of Oncology, Sibley Memorial Hospital; Module Director-Pediatric and Clinical Genetics, Georgetown University School of Medicine

Reem Saadeh-Haddad, MD is a member of the following medical societies: National Arab American Medical Association

Disclosure: Nothing to disclose.

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.

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.

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.

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.

• Print this section
• Print the entire contents of
• Print the entire contents of article