Type:
Educational Exhibit
Keywords:
Paediatric, Ear / Nose / Throat, Eyes, CT, MR, Ultrasound, Computer Applications-Detection, diagnosis, Genetic defects
Authors:
M. Gallego Riol1, L. Montsech Angulo2, S. ARENAS MORENO2, S. Lojo Lendoiro3, R. Herrero Herrero4; 1Mérida/ES, 2Badajoz/ES, 3Mérida, Badajoz/ES, 4San Sebastian/ES
DOI:
10.1594/ecr2018/C-1516
Background
The CHARGE syndrome is a congenital disease of unknown cause,
most cases associated with a genetic defect in CHD7 located on chromosome 8.
Occur in approximately 1 in 8,500 to 10,000 newborns.
Mutations in the CHD7 gene cause most cases of CHARGE syndrome although a small percentage of individuals with CHARGE syndrome do not have an identified this mutation.
Some of them may have a genetic change affecting the CHD7 gene that has not been found,
and others may have a change in a different gene.
The CHD7 gene provides instructions for making a protein that regulates gene activity by a process known as chromatin remodeling.
Most mutations in the CHD7 gene lead to the production of an abnormal CHD7 protein that is broken down prematurely.
Shortage of this protein is thought to disrupt chromatin remodeling and the regulation of gene expression.
Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome.
When this syndrome is caused by mutations in the CHD7 gene,
it follows an autosomal dominant pattern of inheritance.
Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
In rare cases,
an affected person inherits the mutation from an affected parent.
The inheritance pattern of other cases of CHARGE syndrome is unknown.