Novel Pathogenic Variant in Molybdenum Cofactor Deficiency
Author Information
Author(s): Kinsinger Morgan, Ivanisevic Jelena, Mithal Divakar S.
Primary Institution: Northwestern University Feinberg School of Medicine
Hypothesis
The study investigates a novel pathogenic variant in the MOCS2 gene associated with a mild phenotype of molybdenum cofactor deficiency.
Conclusion
The case highlights the importance of exome sequencing in identifying atypical forms of rare diseases like molybdenum cofactor deficiency.
Supporting Evidence
- The patient presented with developmental regression and low serum uric acid.
- Exome sequencing identified a homozygous variant in the MOCS2 gene.
- The diagnosis of MoCD type B was confirmed by elevated urine sulfocysteine and low uric acid.
Takeaway
This study is about a girl who had a rare condition that made her sick, but doctors found a new gene change that helps explain why her symptoms were milder than usual.
Methodology
The study involved exome sequencing and analysis of urine metabolites to confirm the diagnosis of molybdenum cofactor deficiency.
Limitations
The study is limited by the small sample size and lack of clinical phenotype data for many cases in the literature.
Participant Demographics
The patient was a 12-month-old female from first-degree consanguineous Pakistani parents.
Digital Object Identifier (DOI)
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