Genetic Cause Identified for Previously Unrecognized Developmental Disorder

An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism. Identification of these gene variants leads to a better understanding of these complex conditions and opens the possibility of diagnosing other previously undiagnosed patients with similar clinical disorders. The study was published online on December 22, 2016 in the American Journal of Human Genetics. The article is titled “A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.” “We investigate the genetic causes of complex neurological conditions of various types, such as autism spectrum disorders and intellectual disability," said first author Dr. Hsiao-Tuan Chao, Postdoctoral Research Fellow of Pediatric-Neurology at Baylor College of Medicine. "Such conditions are long-lasting, manifest very early in life and range from mild to severe. They can affect different neurological functions; however, sometimes they have overlapping similarities. For many of these conditions there is no definite diagnosis, treatments are limited, and there is no cure." Dr. Chao and colleagues have taken a step toward better understanding some of these conditions. They discovered new mutations of the gene EBF3 in three patients presenting with a newly described syndrome. "The patients' main features include developmental delay, coordination problems, limited facial expressions at an early age, and abnormal verbal communication and social behaviors. They can also present with repetitive motor movements, high threshold to pain, and cognitive impairments," said Dr. Chao.
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