WHAT IS ADNP SYNDROME?
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This important brain gene is highly expressed. It affects brain formation, connectivity and developement, as well as brain function and acts as protein-protecting nerve cells against electrical blockade. Recent studies identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy.
When mutated, this gene can affect brain formation, development and brain function. In addition to the brain, the ADNP gene also affects many other organs and functions of the body. It can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. It can also cause mild to severe delays in intelligence, speech and motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
When the ADNP gene is mutated, a recent study has found that a substantial amount of the children have/had "early tooth eruption". Their baby teeth come in extremely quick, the teeth are usually very small, jagged, wide spaced and with color differences.
Most ADNP children have a full mouth of teeth by their 1st birthday, including molars. Early tooth eruption is NOT seen in any other syndrome, making it a unique and early identifiable diagnostic biomarker for ADNP. To read more click here.
To see a one page fact sheet please click the link below. If you would like a full description please click here.