P848: Novel structural variant in PDGFB-associated with ectopic intracerebral calcifications
Year: 2024
Type: article
Study design: Case Report
Abstract: The NIH Undiagnosed Diseases Program (UDP) enrolls participants with diseases that remain undiagnosed despite extensive standard of care clinical evaluation. Frequently, patients present with negative clinical exome, genome sequencing or gene panels relevant to the phenotype. We have implemented a research analysis pipeline on short read genome sequencing to detect larger or complex structural variants potentially missed by standard bioinformatics clinical analysis. This report focuses on the identification of a novel structural variant responsible for dominant ectopic intracerebral calcifications (EIC) phenotype in a quartet family, affecting a mother and child.
Source: Genetics in Medicine Open
Authors: David D'Onofrio, Andrea Cohen, Meredith Gillis, Seth Berger, May Christine Malicdan, William Gahl, David Adams, Camilo Toro, Thomas Cassini
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392588721