Patient With Stickler’s Syndrome

Sticker syndrome is a group of genetic diseases affecting collagen biosynthesis genes. It destroys the metabolism of hyaluronic acid and 2-D collagen and affects the connective tissues in the body, especially the collagen connective tissue. The estimated prevalence of Sticklers syndrome is 1 in 10,000 people and 1 in 7500 to 9000 newborns. People with Sticker's syndrome are at risk of facial abnormalities such as glaucoma, myopia, retinal detachment, vitreous humor abnormalities, joint disorders, hearing loss.

Sticker syndrome: Several mutations in the COL2A1 gene result in the production of abnormally short proteins that can not be incorporated into type II collagen fibers. However, most of the COL2A1 mutations that cause Stiller's syndrome have premature stop signals in one copy of the gene. Thus, the cells produce only half the amount of pro-alpha 1 (II) collagen chains as usual. This deficiency results in insufficient production of type II collagen in cartilage and causes symptoms of Stiller's syndrome COL2A1

So far, the team at Sherenberg discovered four different mutations that destroy this gene in patients with Werner syndrome. Four mutations in Werner's syndrome patients were detected in genes corresponding to chromosome 8. Two mutations are nonsense mutations that produce premature stop codons. Four Japanese Werner syndrome patients, the first cousin's married descendants, and the second representative pre-married Caucasian, were homozygous for this mutation. The second mutation was the first representative before marriage and was found in Japanese patients who were homozygous for that mutation. These mutations were not observed in 48 Caucasian or 96 Japanese control individuals. The third mutation found in the Syrian family is a splice junction mutation. This eliminates exons from the final mRNA. Exons are DNA fragments or gene fragments that are transcribed and translated by donor cells.

Yu et al. (1996) Four mutations in the WRN gene were found in patients with Werner's syndrome. The two mutations (604611.0003 and 604611.0004) are splicing point mutations and the predicted outcome was the exclusion of exons from the final messenger RNA. Among 60% of the Japanese Werner syndrome patients examined, one of these mutations (604611.0004) was found in the homozygous state, and it resulted in a frameshift and predicted truncated protein . The other two mutations were nonsense mutations (604611.0001 and 604611.0002). Identification of putative helicase as a mutation in the gene product of the WRN gene was proposed to Yu et al. (1996), incomplete DNA metabolism involves a complex aging process in patients with Werner's syndrome