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Cockayne syndrome, TYPE A

Cockayne syndrome type A (CSA) is caused by mutation in the gene encoding the group 8 excision-repair cross-complementing protein ERCC8 (CSA) on chromosome 5q11. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See XP complementation group B, which maps to chromosome 2q21; XP complementation group D, which maps to chromosome 19q; and XP complementation group G, which maps to chromosome 13. RIt was reviewed that the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex. They presented a case of XP-CS with neuropathologic findings. Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection. 

OTHER NAME(S): Weber-Cockayne syndrome
Neill-Dingwall Syndrome

ABREVIATION(S):
CSA

TYPE: neurodegenerative disease, mental retardation (MR), premature aging, skeletal abnormalities, sensitivity to radiation, NO CANCER development, eye or vision problem

Related patway(s): nucleotide excision repair (NER)

DNAtraffic protein(s) related to disease: ERCC8 (CSA)

OMIM: 216400

Last modification date: July 2, 2011