Genetic Study of CHARGE Association (H-7697)
CHARGE stands for coloboma, heart disease, atresia choanae, retarded growth and development and/or brain and spinal cord abnormalities, genital abnormalities and/or hypogonadism, and ear anomalies and/or deafness. "Coloboma" is a term for a developmental defect of the eye. "Atresia choanae" is a term that means a blockage of the nasal passages. "Hypogonadism" is a term that means there are low levels of male and female sex hormones. CHARGE is a genetic disorder that is caused by mutations in at least two different genes. One of the genes has been discovered and in this study we are attempting identify other genes that might cause the condition. One way to find the causes of CHARGE is to test families. By screening many small segments of the genetic material in CHARGE children we will see if we can find cases where genetic material has been lost or misspelled, then we compare the children with their parents. We will be characterizing gene changes that are only in the child and not in the parents. Participants are asked to provide a small blood or saliva sample at the time of enrollment, and a brief medical history will be obtained. Your participation in this study will help us understand the genetic basis of this association.