Article
A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.
Neurogenetics - 14 Feb 2026
Kaur Namanpreet, Shirsat Khushbu, Bhat Vivekananda, Yeole Mayuri, Farooqui Sheeba, Limaye Sanket, Radhakrishnan Periyasamy, Siddiqui Shahyan, Narayanan Dhanya Lakshmi, Shenoy Rathika, Shukla Anju
Abstract excerpt
Biallelic variants in TPRKB (TP53RK-binding protein) are known to cause Galloway–Mowat syndrome 5 (MIM#617731). It is a rare renal-neurologic disease characterized by early-onset nephrotic syndrome, facial dysmorphism, developmental delay, cerebral and cerebellar atrophy, and central nervous system white matter abnormalities. To date, four families with biallelic variants in TPRKB have been reported. We report...
Topics
- Humans
- Female
- Nephrosis
- Male
- Homozygote
- Microcephaly
- Sequence Deletion
- Hernia, Hiatal
- Pedigree
- Phenotype
- Exome Sequencing