Instituto Valenciano de Microbiología
(IVAMI)

Masía El Romeral
Ctra. de Bétera a San Antonio Km. 0.3
46117 Bétera (Valencia)
Phone. 96 169 17 02
Fax 96 169 16 37
Email: 
www.ivami.com
CIF B-96337217

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Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart - RERE gene

The neurodevelopmental disorder with or without abnormalities of the brain, eyes or heart (NEDBEH), is a process that mainly affects neurological development, leading to intellectual disability, delayed speech development and motor skills or autism spectrum disorders.

In addition to the usual signs of NEDBEH, some affected people have additional neurological features, such as hypotonia, behavioral problems, and seizures. Some affected people also have abnormalities in the corpus callosum, in the white matter, fluid-filled ventricles near the center of the brain, or a structure in the back of the brain known as the cerebellar vermis; ocular abnormalities that can cause vision loss such as coloboma, hypoplasia, optic nerves atrphy, or microphthalmia; heart defects including a ventricular septal defect; renal problems; and inner ear problems. In some people, the signs and symptoms resemble those of another condition known as CHARGE syndrome; however, people with NEDBEH do not have changes in the gene associated with CHARGE syndrome.

This process is due to mutations in the RERE gene (arginine-glutamic acid dipeptide repeats), located on the short arm of chromosome 1 (1p36.23). This gene encodes a protein that helps regulate the activity of several genes that are important for the early development of the brain, eyes, inner ear, heart and kidneys.

At least 15 mutations in the RERE gene have been identified in individuals with neurodevelopmental disorder with or without abnormalities of the brain, eyes or heart (NEDBEH), many of which modify nucleotides. Other mutations add or eliminate nucleotides. It is believed that these genetic changes reduce or eliminate the function of the RERE protein. The deficiency of functional RERE protein probably alters the activity of many genes involved in development before birth. These changes inhibit the normal development of tissues in the brain, eyes, heart and other organs. Although it is unknown why some people with NEDBEH have only neurological problems and others have structural abnormalities, it is believed that the severity of the condition may be related to the location and type of mutation in the RERE gene.

Neurodevelopmental disorder with or without abnormalities of the brain, eyes or heart (NEDBEH) is inherited with an autosomal dominant pattern, which means that a copy of the altered gene in each cell is sufficient to express the process. Most cases of this condition are due to new mutations in the gene that occur during the formation of reproductive cells in the mother of the affected individual or at the beginning of embryonic development. These cases occur in people with no history of the disease in their family.

Tests performed in IVAMI: in IVAMI perform the detection of mutations associated with neurodevelopmental disorder with or without abnormalities of the brain, eyes or heart (NEDBEH), by complete PCR amplification of exons of the RERE gene, and subsequent sequencing .

Recommended samples: blood drawn with EDTA for separation of blood leukocytes, or card impregnated with dried blood sample (IVAMI can mail the card to deposit the blood sample).