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Gale Encyclopedia of Genetic Disorder / Gale Encyclopedia of Genetic Disorders, Two Volume Set - Volume 1 - A-L - I

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Lowe syndrome

tion has been identified in an affected male in the family, the females in the family can undergo DNA testing.

Prenatal diagnosis is possible by measuring the activity of phosphatidylinositol 4,5-bisphosphate 5-phos- phatase in fetal tissue drawn by amniocentesis or chorionic villus sampling (CVS). In cases where the mutation is known, DNA testing can be used in prenatal diagnosis. Fetuses should be tested if the mother is a carrier of a Lowe syndrome. A woman is at risk of being a carrier if she has a son with Lowe syndrome or someone in her family with Lowe syndrome. Any woman at risk of being a carrier can undergo testing to determine if she is at risk to have a son with Lowe syndrome.

Treatment and management

There is currently no cure for Lowe syndrome. Individuals with Lowe syndrome benefit from therapies and regular medical care. Physical therapy, occupational therapy, and speech therapy may be recommended due to developmental delays. Regular eye exams by an ophthalmologist are also recommended. Patients with Lowe syndrome should be followed by a nephrologist (kidney doctor). Dialysis may ultimately be recommended for kidney failure.

Prognosis

The life span of males with Lowe syndrome is limited by their multiple medical problems. Death by middle age is common. However, medical advances are improving the quality of life for individuals with this genetic condition.

Resources

BOOKS

Nussbaum, Robert L., and Sharon Suchy. “The Oculocerebrorenal Syndrome of Lowe (Lowe Syndrome).” In

The Metabolic and Molecular Bases of Inherited Disease.

New York: McGraw Hill, 2001.

PERIODICALS

Monnier, Nicole, V. Satre, E. Lerouge, F. Berthoin, and J. Lunardi. “OCRL1 Mutation Analysis in French Lowe Syndrome Patients: Implications for Molecular Diagnosis Strategy and Genetic Counseling.” Human Mutation 16 (2000) :157–65.

Roschinger, Wulf, A. Muntau, G. Rudolph, A. Roscher, and S. Kammerer. “Carrier Assessment in Families with Lowe Oculocerebrorenal Syndrome: Novel Mutations in the OCRL1 Gene and Correlation of Direct DNA Diagnosis with Ocular Examination.” Molecular Genetics and Metabolism 69 (2000): 213–22.

ORGANIZATIONS

Alliance of Genetic Support Groups. 4301 Connecticut Ave. NW, Suite 404, Washington, DC 20008. (202) 966-5557. Fax: (202) 966-8553. http://www.geneticalliance.org .

Lowe Syndrome Association. 222 Lincoln St., West Lafayette, IN 47906-2732. (765) 743-3634. http://www

.lowesyndrome.org .

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. http://www

.rarediseases.org .

WEBSITES

On-line Mendelian Inheritance (OMIM). www.ncbi.nlm.nih

.gov/htbin-post/Omim/dispmim?309000 .

Holly Ann Ishmael, MS

Lynch cancer family syndrome see

Hereditary colorectal cancer

Lynch syndrome see Muir-Torre syndrome

Lysosomal trafficking regulator see

Chediak-Higashi syndrome

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G A L E E N C Y C L O P E D I A O F G E N E T I C D I S O R D E R S