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How to solve a clinical conundrum: Have you tried a trio exome analysis?
Felicity Beal1, Richard Coward2,3, Caroline Platt4
1Paediatric Education Fellow, Bristol Royal Hospital for Children, Bristol, UK.
Insights
A 5-month-old infant experienced severe kidney injury, hypertension, and life-threatening events after diarrhea. Trio exome analysis rapidly identified a rare genetic cause, highlighting the importance of clinical genetics.
Area of Science:
- Pediatric Nephrology
- Clinical Genetics
- Rare Diseases
Background:
- A 5-month-old infant presented with acute kidney injury (AKI) following a diarrheal illness.
- The infant developed severe hypertension and experienced acute life-threatening events requiring intensive care unit admission.
Observation:
- Management included ventilatory support, renal replacement therapy, and monoclonal antibody therapy.
- Biochemical, hematological, and radiological features were analyzed throughout the clinical course.
- The case highlights challenges in diagnosing and managing complex pediatric conditions.
Findings:
- Trio exome analysis was crucial for identifying the underlying rare monogenic disease.
- Genomic testing strategies, particularly trio exome analysis, are valuable for rapid diagnosis in infants.
Implications:
- Early involvement of clinical genetics teams is essential for complex pediatric cases.
- Trio exome analysis facilitates prompt diagnosis of rare genetic disorders.
- This case underscores the utility of advanced genomic techniques in pediatric medicine.
Abstract:
The following report describes the clinical journey of a 5-month-old male infant who presented with a significant kidney injury following a diarrhoeal illness. His course was complicated by severe hypertension and a number of acute life-threatening events necessitating periods of time on the intensive care unit, where he received ventilatory support and underwent renal replacement therapy and treatment with a monoclonal antibody therapy.We take the reader on a stepwise journey from presentation through to final diagnosis, discussing important biochemical, haematological and radiological features where learning points are discussed. Guidance on the use of genomic testing strategies for the non-geneticist is provided in some detail with a particular focus on the trio exome analysis that identified the diagnosis for this young boy.This complex case not only provides a number of excellent learning opportunities but also highlights the importance of early involvement of the clinical genetics team and the relevance of the trio exome analysis for rapid identification of rare monogenic diseases.
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