Experts at the University of California, Davis uncovered a new gene associated with a neurodevelopmental condition known as DPH5-related diphthamide-deficiency syndrome.
As it was published in Genetics in Medicine, the research team put forth their evidence for DPJ5 as a cause of neurodevelopmental delays.
The research involved molecular testing, performed using exome or genome sequencing.
From the findings: “DPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages.”
“We provide strong clinical, biochemical, and functional evidence for DPH5 as a novel cause of embryonic lethality or profound NDDs with multisystem involvement and expand diphthamide-deficiency syndromes and ribosomopathies,” the authors concluded.
