P007: A case series and functional study of two commonly reported pathogenic variants in OTC supports a hypomorphic classification
Ornithine transcarbamylase deficiency (OTCD), the most common urea cycle disorder, is an X-linked condition that typically manifests as neonatal onset hyperammonemia in males and with variable severity in females. Due to the risk for life-threatening hyperammonemia and the availability of therapies to prevent this complication, OTCD is included in the ACMG list of secondary findings to be reported in clinical exome and genome sequencing and in many larger carrier screening panels. Thus, incidentally, apparently asymptomatic individuals with pathogenic variants in OTC are increasingly being identified.
Authors
- Saima Ali (ORCID: https://orcid.org/0000-0002-2196-6360)
- Sandra Darilek
- Lindsay C. Burrage (ORCID: https://orcid.org/0000-0002-5108-8861)
- Brendan Lee (ORCID: https://orcid.org/0000-0001-8573-4211)
- Sandesh C. Sreenath Nagamani
- V. Reid Sutton (ORCID: https://orcid.org/0000-0002-6450-8554)
- Gareth A. Cromie (ORCID: https://orcid.org/0000-0001-5265-1970)
- Ronit Marom (ORCID: https://orcid.org/0000-0003-3524-661X)
- Russell S. Lo (ORCID: https://orcid.org/0000-0002-0369-7259)
- Aimée M. Dudley (ORCID: https://orcid.org/0000-0003-3644-0625)
- Nicholas Ah Mew (ORCID: https://orcid.org/0000-0002-8790-6432)
- Matthew Snyder
- Steven Lang
Institutions
- Pacific Northwest Diabetes Research Institute (US)
- Baylor College of Medicine (US)
- National Hospital (IN)
- University of Virginia (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102851
- Primary Topic
- Cardiac tumors and thrombi
- Type
- article
- Field-Weighted Citation Impact
- 0.00