A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of Medical Genetics, presents findings that likely represent a definitive clinical marker for some patients' developmental disabilities.
Using whole-exome sequencing -- a method that examines the parts of genes that regulate protein, called exons -- the team identified a genetic change in a newly recognized autism-associated gene, Activity-Dependent Neuroprotective Protein (ADNP), in a girl with developmental delay. This change in the ADNP gene helps explain the cause of developmental delay in this patient. This same genetic change in ADNP was also found in a boy who was diagnosed with autism.
The ADNP gene plays an important role in regulation of early brain development. Recently, genetic changes in this gene have been found to cause a novel genetic syndrome associated with autism. Changes in this gene may be among the most common causes of autism.
"Genetic testing is a very powerful diagnostic tool for individuals with developmental delay," said Eric Morrow, M.D., Ph.D., director of the Developmental Disorder Genetics Research Program at Bradley Hospital and lead author of the study. "Through genetic testing, which is available to some in the clinical setting as well as in research, a medical diagnosis is possible for a large subset of patients."
Morrow continued, "Genetic changes in ADNP are highly associated with autism and are found in at least .17 percent of autism cases. In these patients, changes in this gene represent an important part of the medical cause for developmental delay and/or autism. The use of these genome-wide sequencing methods in patients with developmental disorders is one of the best examples of the applications of modern genomics in clinical practice."
- M. F. Pescosolido, M. Schwede, A. Johnson Harrison, M. Schmidt, E. D. Gamsiz, W. S. Chen, J. P. Donahue, N. Shur, B. A. Jerskey, C. Phornphutkul, E. M. Morrow. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. Journal of Medical Genetics, 2014; 51 (9): 587 DOI: 10.1136/jmedgenet-2014-102444
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