Global team of scientists discover new gene causing severe neurodevelopmental delay
An international team of researchers led by UC Davis geneticist Suma Shankar has discovered a new gene involved in a neurodevelopmental condition called DPH5-associated diphtamide deficiency syndrome. This syndrome is caused by a variant of the DPH5 gene that can cause embryonic death or profound neurodevelopmental delay. Findings from their study were published in Genetics in Medicine. “We are very excited about the discovery of this new gene,” said lead author Suma Shankar, professor in the Department of Pediatrics and Ophthalmology and faculty at the UC Davis MIND Institute. Shankar is director of Precision Genomics, Albert Rowe Endowed Chair in Genetics, and head of the Division of Genomic Medicine. DPH5 is essential for protein biosynthesis. It belongs to the class of genes required for the synthesis of diphtamide, a type of modified amino acid histidine, essential for the synthesis of ribosomal proteins. “We provide strong clinical, biochemical and functional evidence for DPH5