Enterprise AI Analysis
Revolutionizing Rare Disease Diagnostics
Leveraging AI for faster, more accurate identification of complex genetic conditions like Fontaine Progeroid Syndrome.
Executive Impact Summary
Fontaine Progeroid Syndrome (FPS) is a rare autosomal dominant condition caused by mutations in SLC25A24, a gene critical for mitochondrial function. This case report details the first Japanese patient with FPS diagnosed during the neonatal period, presenting with severe symptoms including intrauterine growth restriction, pulmonary hypertension, hyperlactatemia, and decreased mitochondrial respiratory chain enzyme activity, leading to early demise. The presence of a de novo pathogenic variant (NM_013386.5:c.649C>T, p.(Arg217Cys)) in SLC25A24, combined with significant Complex I and IV enzyme deficiencies, confirms the diagnosis of neonatal Mitochondrial Respiratory Chain Disorder (MRCD).
0
Complex I Activity (Muscle)
0
Complex I Activity (Heart)
0
Birth Weight
0
Lactate/Pyruvate Ratio (Day 1)
Deep Analysis & Enterprise Applications
Select a topic to dive deeper, then explore the specific findings from the research, rebuilt as interactive, enterprise-focused modules.
NM_013386.5:c.649C>T
Identified Pathogenic Variant in SLC25A24
Targeted gene panel sequencing confirmed a heterozygous de novo pathogenic variant in exon 5 of SLC25A24, leading to a p.(Arg217Cys) amino acid change. This finding, classified as pathogenic by ACMG guidelines, was crucial for diagnosing Fontaine progeroid syndrome (FPS).
Enterprise Process Flow
SLC25A24 encodes ATP-Mg/Pi carrier
→
Regulates mitochondrial membrane potential
→
Mutation disrupts function
→
Leads to mitochondrial swelling & cell death
→
Causes secondary oxidative phosphorylation defects
The SLC25A24 gene encodes a mitochondrial inner membrane carrier essential for ATP-Mg/Pi exchange. Mutations disrupt this critical function, impacting mitochondrial membrane potential and leading to cellular dysfunction. This flowchart illustrates the cascade from genetic anomaly to mitochondrial disease.
| Feature | This Case | Known FPS Cases |
|---|---|---|
| Intrauterine Growth Restriction |
|
|
| Pulmonary Hypertension |
|
|
| Hyperlactatemia |
|
|
| Decreased Subcutaneous Fat |
|
|
| Translucent Skin/Prominent Veins |
|
|
| Depressed Nasal Bridge |
|
|
| Low-set Ears/Thin Upper Lip |
|
|
| Craniosynostosis |
|
|
| Early Demise |
|
|
This patient presented with a severe phenotype of FPS, including several features consistent with previously reported cases, alongside novel findings like significant hyperlactatemia. The table highlights key clinical observations.
Meeting Neonatal MRCD Diagnostic Criteria
The diagnosis of neonatal mitochondrial respiratory chain disorder (MRCD) was firmly established in this case by fulfilling two major criteria: 1) Enzyme activity of Complex I in muscle was below 20% of standard, and 2) a clear pathogenic variant (SLC25A24) was identified. This robust diagnosis underscores the severity and the urgent need for early intervention in such conditions, particularly given the poor prognosis for ELBW infants with FPS.
15 Days
Survival Duration in This ELBW Case
While some FPS patients survive into their teens, severe fetal growth restriction and presentation in extremely low birth weight (ELBW) infants, as seen here, are associated with a poor prognosis. This patient's survival for 15 days highlights the challenges in managing such a severe phenotype, which was exacerbated by sepsis.
Calculate Your Potential ROI with AI Diagnostics
See how implementing AI for genetic disease diagnostics can translate into significant time and cost savings for your organization.
Estimated Annual Savings
Calculating...
Annual Hours Reclaimed
Calculating...
AI Implementation Roadmap
Our phased approach ensures a smooth and effective integration of AI into your genetic diagnostic workflows, maximizing impact and minimizing disruption.
AI-Powered Variant Screening
Utilize advanced AI algorithms to rapidly screen for known and novel pathogenic variants in SLC25A24 and other related genes, significantly reducing diagnostic turnaround time.
Phenotype-Genotype Correlation
Employ machine learning to correlate complex clinical phenotypes (e.g., severe growth restriction, specific cardiac anomalies) with genetic findings, aiding in early diagnosis and personalized treatment strategies.
Mitochondrial Function Assessment
Integrate AI with metabolic profiling and enzyme activity data to predict the functional impact of genetic variants on mitochondrial respiratory chains, refining prognostic indicators.
Therapeutic Strategy Development
Leverage AI to identify potential therapeutic targets or existing drugs that could mitigate mitochondrial dysfunction associated with SLC25A24 mutations, guiding clinical trials.
Ready to Transform Your Genetic Diagnostics?
Accelerate Your Genetic Research with AI
Ready to Get Started?
Book Your Free Consultation.
Let's Discuss Your AI Strategy!
Lets Discuss Your Needs
Select a Date
Sun
Mon
Tue
Wed
Thu
Fri
Sat