[Cockayne syndrome: reporting a case from Iran with a novel mutation]

ABSTRACT

Cockayne syndrome is a very rare genetic disorder with a recessive autosomal inheritance. The disease is characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. We report here an Iranian family with one affected child who is suffering from Cockayne syndrome. Cardinal features were failure to thrive, short stature, premature aging, microcephaly, dysarthric speech, photosensivity, sunken eyes, and dental caries. There was no blindness or deafness, and the fundus examination showed 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