Talk:TSHZ3

additional published information to the Wikipedia page about the TSHZ3 gene

Recent Advances

1. Identification of Pathogenic Mutations

In 2022, Dr. Johannes Mayr’s team identified a missense mutation in TSHZ3 linked to neurodevelopmental and renal disorders, confirming TSHZ3 as the causative gene for ASD and CAKUT in this syndrome. (Feichtinger et al., 2022, PMID 36553458)

In 2025, Dr. Ruthild Weber’s team revealed additional point mutations in TSHZ3 in patients with CAKUT, further strengthening the gene-phenotype association. (Kesdiren et al., 2025, PMID 39420202)

2. Mouse Models

Inactivating Tshz3 in Striatal cholinergic interneurons (SCINs) disrupts their developmental trajectory, leading to an overrepresentation of striosomal SCINs and decreased activity. This imbalance is linked to repetitive behaviors and ASD-like phenotypes. (Molitor et al., 2025, Molecular Psychiatry, PMID 40908363)

Deletion of Tshz3 in cortical projection neurons impairs social interaction, while its deletion in SCINs drives repetitive behaviors. Electrophysiological data confirm the direct involvement of the corticostriatal circuit in ASD. (Caubit et al., 2022, Translational Psychiatry, PMID 35292625; Chabbert et al., 2019, Biological Psychiatry, PMID 31060802)

Postnatal deletion of Tshz3 in cortical projection neurons alters the expression of 1,025 genes, 50% of which have human homologs implicated in ASD. (Chabbert et al., 2019, Biological Psychiatry, PMID 31060802)

Tshz3 haploinsufficiency in mice leads to reduced glomerular density, altered gene expression, and urinary peptide signatures (Sanchez-Martin et al., 2022, Human Molecular Genetics, PMID 34919690) Asilomar31st (talk) 12:43, 19 February 2026 (UTC)