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Clinical

Researchers uncover a new gene implicated in neurodevelopmental delays

Staff Writer
Staff Writer 1 month ago
Updated 2022/07/13 at 1:08 AM
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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.

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TAGGED: neurodevelopment, genes, Genetics
Staff Writer July 12, 2022
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