Gorlin-Chaudhry-Moss syndrome is a condition that affects many parts of the body. The signs and symptoms of this disorder are apparent from birth or infancy.

Gorlin-Chaudhry-Moss syndrome can be caused by mutations in the SLC25A24 gene. This gene provides instructions for producing a protein that transports molecules across the inner membrane of the mitochondria, the energy-producing centers in cells. Among these molecules is ATP, which is the cell's main energy source. Transportation of ATP within the mitochondria is essential for normal energy production, the formation and breakdown (metabolism) of various molecules, and protein production within cells.

Gorlin-Chaudhry-Moss syndrome is an extremely rare condition. Approximately ten affected individuals have been described in the medical literature. All known individuals with this condition have been female.

In individuals with an SLC25A24 gene mutation, Gorlin-Chaudhry-Moss syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, the condition results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development.

Published Date: February 01, 2018
Published By: National Institutes of Health