cockayne syndrom: reporting a cases from iran confirmed by dna-repair and direct sequencing analysis

cockayne syndrome is a very rare genetic disorder with a recessive autosomal mode of inheritance characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. we report an iranian family with one affected child who suffers from cockayne syndrome. cardinal features are failure to thrive, short stature, premature aging, microcephaly, dysarthric speech, photosensivity, sunken eyes, and dental caries. there is no blindness or deafness and the fundus examination revealed tapetoretinal degeneration. direct sequencing of all coding sequences of csa and csb genes showed a novel mutation (c.2382+57g>t in intron 10 of csb) that was not reported before. this variation might perturb splicing in csb. however, to prove the pathogenicity of this mutation, mrna analysis on fibroblast is planned to be investigated.