Ask about this productRelated genes to: ROGDI antibody
- Gene:
- ROGDI NIH gene
- Name:
- rogdi atypical leucine zipper
- Previous symbol:
- -
- Synonyms:
- FLJ22386
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2006-03-08
- Date modifiied:
- 2019-04-23
Related products to: ROGDI antibody
Related articles to: ROGDI antibody
- The absence of non-European cohorts in genetic studies of neurodevelopmental and neuropsychiatric disorders severely limits the understanding of their full genetic architecture and undermines implementation of precision medicine. Here, we directly addressed this issue by recruiting African Americans (AfrAms) with autism spectrum disorder (ASD) and analyzing their rare and common genetic variation. We performed both global and local ancestry analyses to characterize the complex patterns of admixture at the individual level and compare genetic factors between European (EUR) and African (AFR) genetically inferred ancestries (GIAs) across multiple cohorts in a total of 38,483 autistic individuals. We showed consistent common variant genetic effect sizes for ASD in EUR and AFR GIAs through genome-wide association studies. We demonstrated the limited transferability of EUR-derived polygenic scores (PGSs) based on polygenic transmission disequilibrium and ancestry partial PGS analysis. We found significant autism association for high-impact rare copy number variants in both GIAs. We identified a set of candidate ASD loci based on rare deletions observed in AFR GIA carriers, including , , , and , and detected a signal for missense variants of predicted low impact in AFR GIA individuals. Finally, we uncovered significant depletion of AFR GIA autistic carriers of rare variants in known associated genes found in EUR cohort studies. These findings are the first to detail common and rare variant genetic contributions to ASD in AfrAms and demonstrate that their involvement in neurodevelopmental and neuropsychiatric disorders' genomic research is essential to advance discovery. - Source: PubMed
Publication date: 2025/11/19
Cirnigliaro MatildeLowe Jennifer KFlynn-Carroll Alexander OKumagai Michi EGibson David SFu Jack MDong ShanHou KangchengPillalamarri VamseeAbbacchi Anna MGulsrud Amanda CMiller JanetZhang YiGraham Erin TAkinyemi Elizabeth OAdams Marshel FClay Amaris NArteaga Stephanie AChoi HaileyKochis Ryan MPeña-Velasco Jorge EHoekstra Jackson NBesterman Aaron DMehta SunilHadzic TarikWilson Rujuta BBrown Tashalee RHernandez Leanna MMarrus NatashaMolholm SophieKlaiman CherylCantor Rita MTalkowski Michael ESanders Stephan JArking Dan EPasaniuc BogdanKlin AmiConstantino John N Geschwind Daniel H - -related neurodevelopmental and dental disorder (-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 -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 atypical leucine zipper gene, 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 -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 -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. - Source: PubMed
Publication date: 2025/10/14
Gverdtsiteli SopioHammer Trine BjørgHermann XeniaAndersen Noemi BecserRos-Pardo DavidMarcos-Alcalde IñigoGómez-Puertas PaulinoBrook Alan HenrySilahtaroglu AsliTümer Zeynep - Kohlschütter-Tönz syndrome (KTS) (OMIM#226750) is a rare autosomal recessive disorder characterized by epileptic encephalopathy, developmental delay, and amelogenesis imperfecta. Early diagnosis and management are crucial, but the complexity of symptoms, particularly dental and neurological impairments, poses significant challenges. The aim of this report is to describe the clinical findings of 2 siblings and their dental management, whose dental examination led to genetic referral and subsequent diagnosis of KTS. Dental examinations revealed enamel defects consistent with amelogenesis imperfecta, including yellow-brown discoloration, soft enamel, and diastemas in both siblings. The younger sibling, a 9-year-old boy, exhibited early-onset seizures, intellectual disability, spasticity, and a history of kidney stones. The older sibling, a 13-year-old boy, presented with more severe neurodevelopmental delay, early-onset seizures, and drug-resistant epilepsy. Genetic testing confirmed homozygous deletions in the ROGDI gene, leading to the diagnosis of KTS in both siblings. The younger sibling received successful restorative treatment under general anesthesia, while the older sibling's oral care was managed conservatively due to contraindications for general anesthesia. These cases underscore the importance of pediatric dentists in the early identification of rare genetic disorders such as KTS, especially when dental anomalies like amelogenesis imperfecta are present. Timely referral for genetic evaluation can facilitate accurate diagnosis and appropriate care planning. Moreover, sharing clinical experiences and treatment outcomes contributes to a better understanding of this rare syndrome and helps guide future diagnostic and therapeutic strategies. - Source: PubMed
Şivet Ecem AkbeyazAkbeyaz İsmail HakkıBerkel GülcanYeşilyurt AhmetSezer BerkantMenteş Ali - 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. - Source: PubMed
Publication date: 2025/07/15
Absawi Mervat KhouryShama AliFahoum KholoudSlutzky-Goldberg IrisKablan FaresRedenski IdanSrouji Samer - Organelles such as lysosomes and synaptic vesicles are acidified by V-ATPases, which consist of a cytosolically oriented V complex that hydrolyzes ATP and a membrane-embedded V complex that pumps protons. In yeast, V-V association is facilitated by the RAVE (regulator of H-ATPase of the vacuolar and endosomal membrane) complex, but how higher eukaryotes assemble V-ATPases remains unclear. Here we identify a metazoan RAVE complex (mRAVE) whose structure and composition are notably divergent from the ancestral counterpart. mRAVE consists of DMXL1 or DMXL2, WDR7 and the central linker ROGDI. DMXL1 and DMXL2 interact with subunits A and D of the inactive, isolated V. On dissipation of proton gradients, mRAVE binds to V and V, forming a supercomplex on the membrane. mRAVE then catalyzes V-V assembly, enabling lysosomal acidification, neurotransmitter loading into vesicles and ATG16L1 recruitment for LC3/ATG8 conjugation onto single membranes. Our findings provide a molecular basis for neurological disorders caused by mRAVE mutations. - Source: PubMed
Publication date: 2025/07/11
Nardone ChristopherMintseris JulianHe DingweiRutter Justine CEbert Benjamin LGygi Steven PRapoport Tom