Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome.

Abstract

TARP (talipes equinovarus, atrial septal defect (ASD), Robin sequence, persistent left superior vena cava) syndrome is a rare X-linked disorder affecting the RBM10 gene. It was previously viewed as universally fatal in the early neonatal period, however, recent cases have shown patients surviving beyond this stage. We present a male toddler diagnosed with TARP syndrome due to a a previously unreported splicing mutation c.2295+1G>A in the RBM10 gene. At birth, he had an ASD and Robin sequence, two of the eponymous features, as well as other associated phenotypic features. During infancy, he had an extremely high alpha-fetoprotein, conjugated hyperbilirubinaemia and thrombocytopaenia, features not previously described in TARP syndrome. We discuss these findings as well as our patient's survival past the neonatal period with special consideration to recent genotype-phenotypes correlations.

• Authors: Michael Lane, Nicholas M Allen, Johannes Letshwiti
• Journal: BMJ case reports (BMJ Case Rep) Vol. 16 Issue 3 (Mar 21 2023) ISSN: 1757-790X [Electronic] England
• PMID: 36944446 (Publication Type: Case Reports, Journal Article)
• Copyright: © BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Chemical References

• RBM10 protein, human
• RNA-Binding Proteins

Topics

• Male
• Humans
• Pierre Robin Syndrome (diagnosis)
• Clubfoot
• Liver Function Tests
• Vena Cava, Superior
• Phenotype
• Mutation
• Heart Septal Defects, Atrial
• RNA-Binding Proteins (genetics)