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Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome
Michael Lane1, Nicholas M Allen2,3, Johannes Letshwiti4
1Paediatrics, National University of Ireland, Galway, Ireland.
BMJ Case Reports
|March 21, 2023
Summary
TARP syndrome, a rare X-linked disorder, can be survived beyond infancy due to novel RBM10 gene mutations. This case highlights new genotype-phenotype correlations and extends survival understanding for this condition.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, persistent left superior vena cava) is a rare X-linked disorder.
- Previously considered universally fatal in the neonatal period, recent evidence suggests potential for longer survival.
Observation:
- A male toddler with TARP syndrome presented with atrial septal defect and Robin sequence.
- The patient had a previously unreported splicing mutation (c.2295+1G>A) in the RBM10 gene.
- Infancy revealed high alpha-fetoprotein, conjugated hyperbilirubinemia, and thrombocytopenia, not previously associated with TARP syndrome.
Findings:
- Identified a novel RBM10 gene mutation in a surviving TARP syndrome patient.
- Documented new phenotypic features including hyperbilirubinemia and thrombocytopenia in TARP syndrome.
- Demonstrated extended survival beyond the neonatal period in a patient with TARP syndrome.
Implications:
- Expands understanding of RBM10 gene mutations and TARP syndrome phenotypes.
- Suggests RBM10 genotype-phenotype correlations may influence survival.
- Highlights the importance of recognizing atypical presentations and extended survival in rare genetic disorders.
