From the Journals: Mystery of EEC Syndrome's Variable Severity in Children Solved By identifying a protein that acts as a genetic modifier, researchers have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major deformities of the skin and limbs, while other infants bearing the same predisposing genetic mutation bear ... From the Journals
From the Journals  |   October 01, 2013
From the Journals: Mystery of EEC Syndrome's Variable Severity in Children Solved
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Special Populations / Genetic & Congenital Disorders / From the Journals
From the Journals   |   October 01, 2013
From the Journals: Mystery of EEC Syndrome's Variable Severity in Children Solved
The ASHA Leader, October 2013, Vol. 18, 35-36. doi:10.1044/leader.FTJ3.18102013.34
The ASHA Leader, October 2013, Vol. 18, 35-36. doi:10.1044/leader.FTJ3.18102013.34
By identifying a protein that acts as a genetic modifier, researchers have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major deformities of the skin and limbs, while other infants bearing the same predisposing genetic mutation bear little or no sign of the illness, called EEC. The results, published online June 14 in the American Journal of Medical Genetics, suggest that the presence or absence of a single protein determines whether or not a child with the mutation will develop EEC pathology.
EEC stands for ectodactyly, ectodermal dysplasia, clefting syndrome. It is rare in its full-blown form, although individual aspects of the associated pathology, such as cleft palate, are more common. EEC has a known genetic culprit, a DNA mutation in a gene called p63 that causes a mutation in the p63 protein. Only one parent needs to contribute the defective copy of the gene for a child to develop the illness. When one parent carries the mutant gene, each child has a 50 percent chance of having EEC.
The question is why some children with the mutation have severe birth defects, while others—in some cases, siblings of those affected—with the same mutation are mostly or entirely symptom-free. Genetic experiments revealed that the presence or absence of one variant type of the p63 protein—called TAp63—determines whether or not a child with the p63 mutation will develop EEC pathology. TAp63 normally protects from the birth defects; the experiments showed that in its absence, pathology is certain to occur.
The results suggest that levels of the TAp63 protein determine whether children with one copy of the EEC-causing mutation are born with birth defects, and that when levels of TAp63 drop beneath a certain threshold, it is no longer protective, opening the way to pathology.
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October 2013
Volume 18, Issue 10