P788: Unveiling a dual diagnosis: The role of exome reanalysis in evolving pediatric phenotypes
Exome reanalysis identified a homozygous missense variant, c.440G>A (p.Arg147His), in the SLC25A32 gene, in addition to the previously known homozygous variant in the CDSN gene. The SLC25A32 gene encodes a mitochondrial transporter for flavin adenine dinucleotide (FAD) across the inner mitochondrial membrane. Variants in SLC25A32 reduce FAD availability for mitochondrial flavoenzymes, impairing fatty acid β-oxidation and respiratory-chain oxidative phosphorylation.
Authors
- Xinming Zhuo (ORCID: https://orcid.org/0000-0002-1952-7131)
- William Fyke (ORCID: https://orcid.org/0000-0001-8389-9899)
- MAHESH M. MANSUKHANI (ORCID: https://orcid.org/0000-0003-2044-0751)
- Carina Bertolini
- Alejandro Iglesias (ORCID: https://orcid.org/0000-0002-6487-436X)
- Vaidehi Jobanputra (ORCID: https://orcid.org/0000-0003-0962-7873)
- Yu Tian (ORCID: https://orcid.org/0000-0001-8079-6149)
- Sidra Zaheer
Institutions
- Morgan Stanley Children's Hospital (US)
- NewYork–Presbyterian Hospital (US)
- Columbia University Irving Medical Center (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103157
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00