AEC, or Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate syndrome, is definitively caused by specific genetic changes.
The Genetic Origin of AEC Syndrome
AEC syndrome primarily arises from alterations—referred to as variants or mutations—within the TP63 gene. This gene is essential for the proper development of various bodily structures, particularly those derived from the ectoderm, such as the skin, hair, teeth, nails, and certain facial features like the palate.
The genetic changes in the TP63 gene lead to the characteristic symptoms observed in individuals with AEC syndrome. Most cases of this condition are attributed to one of two main ways these genetic changes occur:
How TP63 Gene Changes Occur
| Type of Genetic Change | Description | Inheritance Pattern |
|---|---|---|
| De Novo Variants | Many instances of AEC syndrome are the result of new genetic changes that occur spontaneously in the affected individual. This means the variant is not inherited from either parent but arises for the first time during the formation of reproductive cells or early embryonic development. | Sporadic |
| Autosomal Dominant Inheritance | Other cases of AEC syndrome are passed down through families in an autosomal dominant manner. In this pattern, only one copy of the altered TP63 gene in each cell is sufficient to cause the syndrome. If a parent has the condition, there is a 50% chance with each pregnancy that their child will inherit the altered gene and develop AEC syndrome. | Inherited |
These disruptions in the TP63 gene's normal function are the underlying cause of the developmental abnormalities and varied symptoms experienced by individuals with AEC syndrome.
