What is ARX?
‘ARX’ is the term or symbol used to describe the ‘aristaless related homeobox’ gene. This particular gene functions to regulate the activities of other genes in the body. With this specific function, experts have labeled the ARX gene as a type of transcription factor. One vital function of the ARX gene is during the early development stages of the embryo. At this time, ARX is responsible for various processes involved in forming several structures in the body including vital organs such as the brain, testes, and pancreas. The development of the intestines and other parts of the gastrointestinal tract is also facilitated by the function of the ARX gene.
As a gene, ARX belongs to the homeobox family of genes. Genes under the same family typically share some characteristics and have similar functions. Most of the homeobox types of genes are active in the early embryonic stage of development. And with its involvement in this particular stage of fetal development, problems concerning the ARX gene may lead to some kind of serious illness or condition. Like in the case of mutations to this particular gene, some babies may develop a condition wherein they will have frequent tremors or seizures. These seizures are called infantile spasms, and this condition also presents with cognitive impairment.
Mutations of the ARX gene may also lead to abnormalities in the genital parts of infants. This particular condition is called X-linked lissencephaly, and the genitalia abnormality is also accompanied by problems in the brain and the pancreas. There are also other ARX gene mutations that do not cause any structural abnormalities in the brain. Although mutations in the ARX gene are considered very rare, those who are unfortunate to have this condition typically have a poor prognosis. Based on medical records, about half of the patients affected by ARX mutation may die within their first year of life.