FOXG1 syndrome ... (FOXG1 syndrome) - Gen FOXG1 and chromosome 14
The FOXG1 syndrome is a condition characterized by developmental problems and structural alterations of the brain. Affected children are small at birth, and their heads grow more slowly than normal, leading to microcephaly in early childhood. This syndrome is associated with a particular pattern of brain malformations including underdevelopment callosum and reduced white matter.
This process affects most aspects of development, so affected individuals often have severe intellectual disabilities. Involuntary or abnormal, such as jerking movements of the arms and legs and repetitive hand movements, movements are frequent, and most affected children do not learn to sit or walk unaided. Newborns and young children with FOXG1 syndrome often have feeding problems, sleep disturbances, seizures, irritability and excessive crying. In addition, these individuals have poor communication and social interaction, including poor eye contact and a near absence of speech and language. Because of these social deficiencies, FOXG1 syndrome is classified as autism spectrum process.
The FOXG1 syndrome has been previously classified as a congenital variant of Rett syndrome, a similar process of brain development. Both entities are characterized by developmental problems, mental retardation and problems with communication and language. However, this syndrome is diagnosed almost exclusively in women, while FOXG1 syndrome affects both males and females. Rett syndrome also involves an apparently normal early development does not occur in FOXG1 syndrome. Because of these differences, often it is seen these two entities as separate processes.
As its name suggests, FOXG1 syndrome is due to changes involving the FOXG1 gene (forkhead box G1), located on the long arm of chromosome 14 (14q13). This gene encodes forkhead box protein G1. This protein is a transcriptional repressor which plays an important role in brain development before birth, particularly in a region of the embryonic brain telencephalon called. Telencephalon ultimately unfolds in several critical structures that control most of the voluntary activities, language, sensory perception, learning and memory.
In some cases, FOXG1 syndrome is due to mutations in the gene itself FOXG1 of which have so far been identified 11 different mutations. In others, the syndrome develops as a result of a deletion of genetic material from a region of the long arm of chromosome 14 that includes the FOXG1 gene. All these genetic changes inhibit protein synthesis forkhead box G1 or impair the function of the protein. Deficiency forkhead box protein G1 functional disrupts normal development of the brain before birth, what appears to be the basis of structural brain abnormalities and severe developmental characteristic of FOXG1 syndrome.
This process is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to express syndrome. All reported cases are due to new mutations or deletions involving FOXG1 gene and have occurred in people with no history of disease in your family. Because of the severity of the syndrome, there have been no reports of affected people who have had offspring.
Tests performed in IVAMI: in IVAMI perform detection of mutations associated with syndrome FOXG1, by complete PCR amplification of exons FOXG1 gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).