Lowe oculocerebrorenal syndrome


Why did oculocerebrorenal syndrome happen?

Lowe oculocerebrorenal syndrome, or Lowe syndrome, is a genetic condition that affects the eyes, kidneys, and brain. It primarily affects males although females occasionally have mild symptoms. Problems with the eyes include congenital cataracts in all boys and glaucoma in the first years of life in about half. Developmental delay, intellectual disability and hypotonia (low muscle tone or floppiness) are typical. Progressive kidney (renal) problems usually lead to kidney failure in late childhood or early adulthood.

This condition is caused by mutations (changes or misspellings) in a gene is called OCRL1. The OCRL1 gene gives instructions on how to make a protein called the inositol polyphosphate 5-phosphatase OCRL-1 enzyme. This protein helps to modify a part of our cells that transports things into and out of the cell (cell membrane phospholipids) and also regulates a part of the cell called the actin cytoskeleton that helps to give the cell proper structure. When there is a mutation in the OCRL1 gene, either there is not enough of the protein present, or it doesn't work well. In either case, cells don't work as well, which leads to the symptoms seen in Lowe syndrome. About one-third of the time, the mutation that causes Lowe syndrome is a new change in the child while in the remaining two-thirds of cases, the mutation in inherited from an unaffected mother.

We cannot control what changes to our genes are made, and we cannot control which version of a gene a child inherits. There are no known environmental causes for Lowe syndrome. This means that having Lowe syndrome occurs by chance and is not caused by something a person did or did not do.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/lowe-oculocerebrorenal-syndrome/overview/1411 • DATE UPDATED: 2016-06-10


Lewis, R. A., MD, MS, Nussbaum, R. L., MD, & Brewer, E. D., MD. (2001). GeneReviews® [Internet] - Lowe Syndrome. http://www.ncbi.nlm.nih.gov/books/NBK1480/

Lowe syndrome. (2013). Genetics Home Reference. https://ghr.nlm.nih.gov/condition/lowe-syndrome

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