Have questions? Visit https://www.reddit.com/r/SNPedia

Cockayne syndrome

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude
rs18001240

Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. The underlying disorder is a defect in a DNA repair mechanism. Unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. Wikipedia

Mutations in the ERCC8 (also known as CSA) gene or the ERCC6 (also known as CSB) gene are the cause of Cockayne syndrome. Mutations in the ERCC6 gene mutation makes up ~70% of cases.Wikipedia

Cockayne syndrome patients appear to be particularly vulnerable to chemotherapeutic cisplatin-induced hearing loss.[PMID 27122034]