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ROGDI-related neurodevelopmental and dental disorder (ROGDI-RD), also known as Kohlschütter–Tönz syndrome (KTZS, MIM #226750), is a rare condition characterized by developmental abnormalities affecting both the central nervous system (CNS) and the dentition. These phenotypes highlight the role of complex gene–environment interactions and developmental networks shared by the nervous and stomatognathic systems, both of which originate mostly from neural crest-derived cells. In this review, we analyze clinical and genetic data from 54 previously reported ROGDI-RD patients to better define the phenotypic spectrum of the disorder. Most of the reported cases harbor protein-truncating variants. Here, we also present the first description of a patient carrying a missense variant in ROGDI atypical leucine zipper gene, ROGDI in trans to a frameshift variant. This individual presented with tooth agenesis—a dental anomaly not previously associated with the syndrome—alongside classic neurological and dental enamel features, suggesting that the phenotypic spectrum of ROGDI-RD may be broader than currently recognized. Using a complexity and network science framework, we discuss how dysregulation in multilevel, interacting developmental systems may explain the pleiotropic features of ROGDI-RD. Our findings underscore the importance of early, interdisciplinary clinical evaluation in patients with neurodevelopmental symptoms and enamel defects. As enamel phenotypes such as amelogenesis imperfecta are heterogeneous, comprehensive genomic analyses and collaborative clinical approaches are essential for accurate diagnosis and improved care.

Background Kohlschutter-Tonz syndrome (KTSZ) is a rare, autosomal recessive neurodegenerative disorder. Patients suffer from a triad of developmental delays, epilepsy, and amelogenesis imperfecta (AI). Most reports of KTSZ patients focus on the genetic pattern of the disease and medical features, dental care is not considered a primary part of the initial intervention. Thus, the aim of the current work was to evaluate the impact that dental treatment plans had on both patients and caregivers. Case presentation We present a series of five pediatric patients, aged 4-14 years, and diagnosed with KTSZ. All patients were from Druze origin and carried the same ROGDI gene mutation. Patients were suffering from oral and dental disease due to a lack of prior dental treatment as well as dental manifestations of KTSZ and AI in the form of delayed eruption, small teeth, and yellowish discoloration with hypoplastic enamel. Patients were referred to the Department of Pediatric Dentistry at the Galilee Medical Center and underwent dental treatment under general anesthesia (GA) which included both periodontal and prosthodontic treatment. Post-operatively, patient sreturned for routine follow-up visits every three months to maintain oral hygiene and provide preventive dental care. To assess the impact of dental interventions under GA on the patients’ and their legal guardians, The Early Childhood Oral Health Impact Scale (ECOHIS) was completed by guardians to two months before and two months after dental treatment. Reports indicated a clear improvement both in patients and family domains of ECOHIS post-operatively. Conclusions Comprehensive dental treatment under GA significantly improved KTSZ patients symptoms and functions, as well as parent distress.

Purpose This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases. Methods This patient was registered at the Children’s Hospital of Chongqing Medical University. The patient’s symptoms and treatments were recorded in detail, and the patient was monitored for six years. We employed a combination of the following search terms and Boolean operators in our search strategy: Kohlschütter-Tönz syndrome, KTS, and ROGDI . These terms were carefully selected to capture a broad range of relevant publications in PubMed, Web of Science, WHO Global Health Library, and China National Knowledge Infrastructure, including synonyms, variations, and specific terms related to KTS. The pathogenicity of the variants was predicted using SpliceAI and MutationTaster, and the structures of the ROGDI mutations were constructed using I-TASSER. Results This is the first case report of KTS in China. Our patient presented with epilepsy, global developmental delay, and amelogenesis imperfecta. A trio-WES revealed homozygous mutations in ROGDI (c.46-37_46-30del). The brain magnetic resonance imaging (MRI) and video electroencephalogram (VEEG) were normal. The efficacy of perampanel (PMP) in treating seizures and intellectual disability was apparent. Furthermore, 43 cases of ROGDI -related KTS were retrieved. 100% exhibited epilepsy, global developmental delay, and amelogenesis imperfecta. 17.2% received a diagnosis of attention deficit hyperactivity disorder (ADHD), and 3.4% were under suspicion of autism spectrum disorder (ASD). Language disorders were observed in all patients. Emotional disorders, notably self-harm behaviors (9.1%), were also reported. Conclusion ROGDI -related KTS is a rare neurodegenerative disorder, characterized by three classic clinical manifestations: epilepsy, global developmental delay, and amelogenesis imperfecta. Moreover, patients could present comorbidities, including ADHD, ASD, emotional disorders, and language disorders. PMP may be a potential drug with relatively good efficacy, but long-term clinical trials are still needed.

Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI gene. This syndrome is characterized by epilepsy, psychomotor regression and amelogenesis imperfecta. In this paper, we report a case of a 13-year-old Malian girl presenting with this rare disease. By genetic analysis, we identified a novel ROGDI homozygous mutation NM_024589.1: c.117+1G>T [Chr16 (GRCh37): g.4852382C>A] which confirmed the diagnosis of Kohlschütter-Tönz syndrome. The mutation abolishes the usual splice donor site of intron 2 which leads to the deletion of exon 2 and in-frame assembly of exon 3. Exon 2 encodes a highly conserved leucine-rich region that is essential for ROGDI protein function. Hence, this deletion may affect the function of the ROGDI protein.

Et justement, nous avons voulu sonder l'état d'esprit de cette fameuse majorité silencieuse qui s'exprime dès que l'on quitte la métropole. Denis Martin-Chabot s'est rendu à Terrebonne, au nord-est de Montréal. La circonscription québécoise de Terrebonne. Ici, l'immigration représente moins de 5 pour cent des 66 000 habitants. Le Parti québécois a remporté neuf des dix élections depuis 1976. Pauline Marois se retrouve donc en territoire ami. Ce que je trouve dommage, c'est qu'on est au Québec, c'est notre pays, puis on est obligé de couper nos habitudes. Alors moi je trouve que le Parti québécois a raison d'aller de l'avant, puis il ne devrait pas lâcher.