Bonneau D, Toutain A, Laquerrière A, Marret S, Saugier-Veber P, Barthez MA,Radi S, Biran-Mucignat V, Rodriguez D, Gélot A.It is thought that the disruption of ARX protein function in the pancreas plays a role in the chronic diarrhea and hyperglycemia experienced by individuals with XLAG. In addition to impairing normal brain development, a lack of functional ARX protein disrupts cell differentiation during the formation of the testes, leading to abnormal genitalia. As a result, the ARX protein cannot perform its role regulating the activity of genes important for interneuron migration. In the pancreas and testes, the ARX protein helps to regulate the process by which cells mature to carry out specific functions (differentiation).ĪRX gene mutations lead to the production of a nonfunctional ARX protein or to the complete absence of ARX protein. Interneurons relay signals between neurons. The ARX protein regulates genes that play a role in the migration of specialized neurons (interneurons) to their proper location. In the developing brain, the ARX protein is involved with movement and communication in nerve cells (neurons). The ARX gene provides instructions for producing a protein that is involved in the development of several organs, including the brain, testes, and pancreas.
Most children with XLAG do not survive past early childhood.Īnother key feature of XLAG in males is abnormal genitalia that can include an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia).Īdditional signs and symptoms of XLAG include chronic diarrhea, periods of increased blood sugar (transient hyperglycemia), and problems with body temperature regulation. Starting soon after birth, babies with XLAG have frequent and recurrent seizures (epilepsy). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Individuals with XLAG may also have a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum).
Individuals without any folds in the brain (agyria) typically have more severe symptoms than people with reduced folds and grooves (pachygyria). XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves.
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