Lowe syndrome

Lowe syndrome is an inherited disorder that is characterized by defects in the eyes, brain and kidneys. This disorder typically only affects males. All affected infants are born with a thick clouding of the lenses in their eyes and all children will have some sort of visual impairment due to eye abnormalities. About half will develop increased pressure in their eyes. Affected infants have weak muscle tone at birth that slowly improves with age. Motor development, such as crawling, standing and walking, are often delayed. Some children may never learn to walk and require a wheelchair for mobility. All children with Lowe syndrome will have some degree of intellectual disability. Seizures and behavior problems are also common. Kidney problems usually develop around one year of age. Kidney problems progressively worsen into adulthood and could cause life-threatening kidney disease, which contributes to a reduced life expectancy. There is no cure for Lowe syndrome, but medical surveillance and care may help to improve some symptoms and overall condition of life. Lowe syndrome is caused by pathogenic variants in the OCRL gene.

Lowe syndrome is inherited in an X-linked manner. This type of inheritance requires the presence of one copy of a pathogenic variant in the gene located on the X-chromosome for males to be affected. When the pathogenic variant is inherited from the unaffected carrier mother, the male child will have the genetic disease. There is a 50% chance that a baby will inherited the pathogenic variant from the mother; females who inherited the pathogenic variant will be carriers, males who inherited the pathogenic variant will be affected.

There are generally no signs or symptoms associated with being a carrier for Lowe syndrome. However, the risk to have a child affected with Lowe syndrome is increased for female carriers.

Lowe syndrome is rare, estimated to occur in 1 in 500,000 newborns worldwide.

The following websites may be informative: Genetic Home Reference: Lowe syndrome (http://ghr.nlm.nih.gov/)

Gene Reviews: Lowe disease (http://www.ncbi.nlm.nih.gov/books/NBK1116/) OMIM: [309000: LOWE OCULOCEREBRORENAL SYNDROME] (http://www.ncbi.nlm.nih.gov/omim)

• Full gene sequencing