Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A

Abstract

Cockayne syndrome (CS) is a rare autosomal recessive disease with diverse clinical symptoms including neurological/developmental abnormalities, premature aging, and photosensitivity. [1] Complementation assays have defined two genetic groups of CS: Cockayne syndrome A and Cockayne syndrome B, caused by mutations in ERCC8 and ERCC6 gene respectively. [2]

We investigated a family with Cockayne Syndrome A from China. The proband was a 14-year-old female who presented with on and off itchy skin rashes on face at 1 year of age (Fig. 1A).

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