P076: Molybdenum cofactor deficiency: Results of rapid S-sulfocysteine analysis and genome sequencing still not rapid enough
Genome sequencing results were obtained 8 days after demise revealing homozygosity for 2 likely pathogenic missense variants in MOCS1 (c.484C>T (p.R162W) and c.970G>T (p.G324W)). He had a secondary finding of 1 heterozygous, paternally inherited, pathogenic variant in KCNQ1 associated with long QT arrhythmogenic spectrum disorder. The family was counseled appropriately, including the implications for paternal arrhythmia monitoring and management.
Authors
- Manubhai Patel (ORCID: https://orcid.org/0000-0002-7300-8973)
- Monika Williams (ORCID: https://orcid.org/0000-0003-2292-6501)
- Ashlee R. Stiles
- Sarah Young (ORCID: https://orcid.org/0000-0003-2748-831X)
- Molly M. Crenshaw (ORCID: https://orcid.org/0000-0002-0915-6154)
- Mariele Anneling
- Areeg El‐Gharbawy (ORCID: https://orcid.org/0000-0002-0682-388X)
- Ben Cocanougher (ORCID: https://orcid.org/0000-0003-0648-554X)
- Dmitriy Niyazov (ORCID: https://orcid.org/0000-0002-1094-3913)
Institutions
- Duke University (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102920
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00