Congenital Disorders of Nonhuman Primates

Congenital anomalies are abnormalities of structure or function that occur before birth although they may be detected prenatally, at birth, or during postnatal life. A number of causes may underlie their development in utero including genetic mutations, chromosomal aberrations, teratogenic compounds, maternal factors, and infectious diseases. The increasing availability of genetic sequencing has elucidated the basis of some monogenetic diseases in NHP as well as humans. Diseases caused by single gene mutations may cause local or wide-ranging effects dependent on where the proteins are normally expressed. Defects in genes involved with embryonic patterning and organ development often result in early and severe malformations. Genetic diseases can result from loss of function of proteins such as enzymes, ion channels, and structural elements. Gene mutations can also be grouped by the affected cellular organelles such as ciliopathies and lysosomal storage diseases. The other causes of congenital anomalies are much less commonly identified and the etiology of a vast majority of congenital defects remains unknown. This chapter presents examples of a number of spontaneous congenital defects and genetic diseases in laboratory NHP.