Characteristic genetic mutation in elder sister and younger brother with the Cockayne syndrome A

Abstract

  The Cockayne syndrome (CS) is a very rare disease with symptoms including short stature, mental retardation, microcephaly, pigmentary degeneration of the retina, premature senility, renal dysfunction, and photosensitivity. These symptoms tend to appear slowly, and the disease often cannot be diagnosed at the early stages. Here, we describe the cases of elder sister and younger brother with the Cockayne syndrome A (CSA) presenting the same homozygous mutation with the inversion and deletion of ERCC8. Only one genetic analysis of CSA has been reported previously in Japan, showing that three out of five patients present this type of mutation. Thus, we concluded that this mutation must be a founder effect of CSA in Japan.