Xeroderma pigmentosum-Cockayne syndrome complex: A further case

Journal of Medical Genetics

Volumn 33, Issue 7, 1996, Pages 607-610

  Hamel, Ben C J ^a   Raams, Anja ^b   Schuitema Dijkstra, Anke R ^c   Simons, Patrick ^d   Van Der Burgt, Ineke ^a   Jaspers, Nicolaas G J ^b   Kleijer, Wim J ^d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c JEROEN BOSCH HOSPITAL   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Cockayne syndrome; COFS syndrome; XP CS complex

Indexed keywords

ARTICLE; CASE REPORT; CLEFT PALATE; COCKAYNE SYNDROME; CONSANGUINEOUS MARRIAGE; EXCISION REPAIR; FACE MALFORMATION; FEEDING DISORDER; FLEXION CONTRACTURE; GROWTH DISORDER; HUMAN; HUMAN CELL; INFANT; INTRAUTERINE GROWTH RETARDATION; LOW BIRTH WEIGHT; MALE; MICROPHTHALMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHOTOSENSITIVITY; PRIORITY JOURNAL; SHORT STATURE; XERODERMA PIGMENTOSUM;

EID: 0030016061     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.7.607     Document Type: Article

References (18)

1. Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG. Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair. Ann Intern Med 1974;80:221-8.
2. Scott RJ, Itin P, Kleijer WJ, Kolb K, Arlett CF, Mueller HJ. Xeroderma pigmentosum - Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency' of DNA excision repair. J Am Acad Dermatol 1993;29:883-9.
3. Vermeulen w, Scott RJ, Rodgers S, et al. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet 1994;54:191-200.
4. Vermeulen W, Stefanini M, Giliani S, Hoeijmakers JHJ, Bootsma D. Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat Res 1991;255:201-8.
5. Broughton BC, Thompson AF, Harcourt SA, et al. Molecular and cellular analysis of the DNA repair defect in a patient with xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet 1995;56:167-74.
6. Jaeken J, Klocker H, Schweiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M. Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet 1989;83:339-16.
7. Vermeulen W, Jaeken J, Jaspers NGJ, Bootsma D, Hoeijmakers JHJ. Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet 1993;53:185-92.
8. Okinaka RT, Perez A, Laubscher K, Sena AP, Machines MA, Kraemer KH. Identification of mutations within the ERCC5 gene in a xeroderma pigmentosum group G pedigree. J Cell Biochem 1995;suppl21:A285.
9. O'Donovan A, Davies AA, Moggs JG, West SC, Wood RD. XPG endonuclease makes the 3′ incision in human DNA nucleotide excision repair. Nature 1994;371:432-5.
10. Lowry RB. Invited editorial comment: early onset of Cockayne syndrome. Am J Med Genet 1982;13:209-10.
11. Patton MA, Giannelli F, Francis AJ, Baraitser M, Harding B, Williams AJ. Early onset Cockayne's syndrome: case reports with neuropathological and fibroblasts studies. J Med Genet 1989;26:154-9.
12. Lowry RB, MacLean R, McLean DM, Tischler B. Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome. J Pediatr 1971;79:282-4.
13. Sugarman GI. Syndrome of microcephaly, cataracts, kyphosis and joint contractures versus Cockayne syndrome. J Pediatr 1973;82:351.
14. Pena SDJ, Evans J, Hunter AGW. COFS syndrome revisited. Birth Defects 1978;XIV:205-13.
15. Winter RM, Donnai D, Crawfurd Md'A. Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures. J Med Genet 1981;18:129-33.
16. Bootsma D, Weeda G, Vermeulen W, et al. Nucleotide excision repair syndromes: molecular basis and clinical symptoms. Philos Trans R Soc Lond B 1995;247:75-81.
17. Robbins JH. Xeroderma pigmentosum, defective DNA repair causes skin cancer and degeneration. JAMA 1988;260:384-8.
18. Nouspikel T, Clarkson SG. Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. Hum Mol Genet 1994;3:963-7.