HIVEP2 related intellectual disability (HIVEP2-related intellectual disability) - Gen HIVEP2
Intellectual disability related HIVEP2 is a neurological condition characterized by developmental delay, mental retardation and dysmorphic features. Early symptoms of the disease include hypotonia, delayed development of motor skills and language. Most people with intellectual disabilities related HIVEP2 also have unusual physical characteristics such as hypertelorism, broad nasal bridge and digits with tapered ends. In addition, many people affected manifest behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum disorders.
Other features of intellectual disability related to HIVEP2 include mild abnormalities in brain structure and microcephaly. Some common health problems less may include seizures; recurrent ear infections; and eye disorders, strabismus, amblyopia and hyperopia. Some people also have gastrointestinal problems such as gastroesophageal reflux and constipation.
As the name suggests, this process is due to mutations in the gene HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2), located on the long arm of chromosome 6 (6q24.2), which encodes a protein that acts as factor transcription. The HIVEP2 protein is more abundant in the brain, which controls the expression of multiple genes, many of which are involved in growth and brain development. This protein may also play a role in the function of immune system cells and bone remodeling process. It may also be involved in other processes in the body; however, these additional functions are not fully understood.
They have been reported at least nine mutations in the gene HIVEP2 in individuals with intellectual disabilities related to HIVEP2. It is believed that mutations in the gene result HIVEP2 deficiency HIVEP2 functional protein. It is unclear how these genetic changes underlying the characteristics associated with intellectual disability related to HIVEP2, although it is believed that a deficiency of the protein HIVEP2 alters the expression of several genes involved in growth and brain development. Abnormalities in the growth and development of the brain probably explain cognitive problems and other neurological features of intellectual disability related to HIVEP2. It is unclear how gene mutations HIVEP2 contribute to unusual physical characteristics and health problems that can occur in this disease.
Intellectual disability related HIVEP2 is inherited in an autosomal dominant pattern, which means that a copy of the altered gene in each cell is sufficient to express the process. Most cases are due to new mutations in the gene that occur during cell formation or early embryonic development. These cases occur in people with no history of disease in your family.
Tests in IVAMI: in IVAMI perform detection of mutations associated with mental retardation related HIVEP2 by the complete PCR amplification of exons HIVEP2 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).