Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6

Abstract

Cockayne syndrome is a rare multi-systemic autosomal recessive condition characterized by variable post natal growth failure, neurological impairment, feeding difficulty, and progressive skin, ophthalmological, auditory and dental abnormalities. Life-span is usually shortened and death occurs in childhood or adolescence in the majority of cases. Only 3 cases of chromosomal aberrations as a cause of CS have been previously reported. We report a patient with a clinical phenotype of severe infantile CS who has a paternally inherited 5Mb deletion of 10q11.2 resulting in loss of one allele and a previously unreported frameshift mutation of ERCC6 on the maternal allele.