Cockayne syndrome

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 Inclusion Criteria:

A likely diagnosis of Cockayne syndrome

  • Major criteria:
    • Microcephaly (pre- or post-natal onset)
    • Small stature (pre- or post-natal onset)
  • Minor criteria:
    • Persistently cold peripheries
    • Bilateral hearing loss (conductive, sensorineural or mixed; not unilateral)
    • Clinical cutaneous photosensitivity (n.b. skin biopsy testing of DNA repair is NOT REQUIRED)
    • Tremor
    • Joint contractures
    • Progressive loss of body fat
    • Cataracts
    • Enophthalmia
    • Brain imaging abnormality – cerebral calcification, dysmyelination or cerebellar hypoplasia (if more than one present, still count as only ONE minor criterion)

A likely diagnosis of Cockayne syndrome is defined as both major criteria and 2 minor criteria.

 Exclusion Criteria:

  • Known molecular genetic diagnosis

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

 Prior genetic testing genes

Testing as below is strongly recommended PRIOR TO RECRUITMENT as diagnosis of these disorders carries important management implications:

  • ERCC6 and ERCC8

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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