EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

Overview

Overview

Genetic DisorderGenetic disorders are diseases or conditions caused by changes in an individual's DNA. These changes, known as mutations, can be inherited from parents or occur randomly during a person’s life. Some genetic disorders, such as sickle cell anemia and cystic fibrosis, result from single-gene mutations, while others, like Down syndrome, are caused by chromosomal abnormalities. Understanding genetic disorders helps scientists develop medical treatments, improve genetic counseling,...