A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5

Key Points

• A novel homozygous in-frame deletion variant in TPRKB leads to Galloway-Mowat syndrome 5.
• This variant was found in a single patient, providing key evidence for its role in the syndrome.
• Analysis of genetic data revealed a unique deletion impacting TPRKB function, contributing to the syndrome's pathology.
• Identification of this variant highlights the importance of genetic testing in understanding rare syndromes.