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FB2026_01
,
released March 12, 2026
This report describes Kohlschutter-Tonz syndrome (KTZS); KTZS exhibits autosomal recessive inheritance. The human gene implicated in this disease is ROGDI, about which little is known. There is a single orthologous gene in Drosophila rogdi; Dmel\rogdi has been shown to regulate transmission of the neurotransmitter gamma-aminobutyric acid (GABA) in GABAergic neurons. Multiple genetic reagents have been generated for rogdi including RNAi-targeting and over-expression constructs and alleles caused by insertional mutagenesis.
The human ROGDI gene has not been introduced into flies.
Animals carrying homozygous or trans-heterozygous loss-of-function mutations of rogdi survive to adulthood; they exhibit bang-sensitivity, a phenotype similar to seizure sensitivity in humans (see FBhh0000268). Using RNAi targeted to different neurons, reduction of rogdi expression in vesicular glutamate transporter (VGlut)-expressing neurons, but not other neurotransmitter-specific neurons, results in the bang-sensitive phenotype. Using a phenotype not associated with KTZS (disruption of sleep patterns), it has been shown that rogdi sleep suppression phenotypes are rescued by sustaining GABAergic transmission primarily via metabotropic GABA receptors.
[updated Nov. 2021 by FlyBase; FBrf0222196]
[KOHLSCHUTTER-TONZ SYNDROME; KTZS](https://omim.org/entry/226750)
[ROGDI ATYPICAL LEUCINE ZIPPER; ROGDI](https://omim.org/entry/614574)
Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Impaired intellectual development is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012, pubmed:22424600; Mory et al., 2012, pubmed:22482807). [from MIM:226750; 2021.11.10]
Kohlschutter-Tonz syndrome (KTZS) is caused by homozygous or compound heterozygous mutation in the ROGDI gene. [from MIM:226750; 2021.11.10]
One to one: 1 human gene to 1 Drosophila gene.
High-scoring ortholog of human ROGDI (1 Drosophila to 1 human). Dmel\rogdi shares 39% identity and 53% similarity with the human gene.