Genetic Prevalence
Diastrophic dysplasia affects about 1 in 100,000 births. It is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. The protein encoded by this gene is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, but in adulthood this tissue continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.
This condition is an autosomal recessive disorder, meaning that the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. The parents of a child with an autosomal recessive disorder are usually not affected by the disorder.
Read more about this topic: Diastrophic Dysplasia
Famous quotes containing the words genetic and/or prevalence:
“Man is not merely the sum of his masks. Behind the shifting face of personality is a hard nugget of self, a genetic gift.... The self is malleable but elastic, snapping back to its original shape like a rubber band. Mental illness is no myth, as some have claimed. It is a disturbance in our sense of possession of a stable inner self that survives its personae.”
—Camille Paglia (b. 1947)
“The prevalence of suicide, without doubt, is a test of height in civilization; it means that the population is winding up its nervous and intellectual system to the utmost point of tension and that sometimes it snaps.”
—Havelock Ellis (1859–1939)