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Cockayne syndrome type A

 

Gene Reviews

Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall Syndrome) is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight, and premature aging. Hearing loss and eye abnormalities are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. Mutations in the ERCC6 and ERCC8 genes are the cause of Cockayne syndrome. The proteins made by these genes are involved in repairing damaged DNA via the transcription-coupled repair mechanism, particularly the DNA in active genes. If either the ERCC6 or the ERCC8 gene is altered, DNA damage is not repaired. As this damage accumulates, it can lead to malfunctioning cells or cell death. Our laboratory performs testing for the ERCC8 mutation.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code Q87.1

Test Requisition: Sequencing Requisition

CPT Code: 81479 Cost: $1350.00

Turn-around-time: 5-6 weeks

Specimen Requirements

Shipping Information

References

1. Janssen, N; Bergman, JE; Swertz, MA; Tranebjaerg, L; Lodahl, M; Schoots, J; Hofstra, RM; van Ravenswaaij-Arts, CM; Hoefsloot, LH (2012). "Mutation update on the CHD7 gene involved in CHARGE syndrome.". Human mutation 33 (8): 1149–1160.

2. Bender MM, Potocki L, Metry DW.(2003)  “What syndrome is this? Cockayne syndrome”. Pediatr Dermatol. 20(6):538-40.

3. Hanawalt PC. (2000) “DNA repair. The bases for Cockayne syndrome”. Nature. 405(6785):415-6.

 

 

 

 


Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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