DeCure for Chromosome 2p16.1-p15 deletion syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for chromosome 2p16.1-p15 deletion syndrome — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleChromosome 2p16.1-p15 deletion syndrome maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for chromosome 2p16.1-p15 deletion syndrome is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
ubiquitin specific peptidase 34 (USP34) — USP34 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet ayedrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7W3U · 3.13 Å · ligand prop-2-en-1-amine (AYE). Experimental structure, not a prediction.
What the evidence adds up to
The 2024 case report describes a nine-year-old boy with a de novo 50 kbp deletion in the 2p15 region, covering only the XPO1 and USP34 genes. His features included mild mental retardation, dysmorphic traits (full lips, broad nasal root, very light hair), joint laxity, brachydactyly, flat-valgus foot with sandal gap, and problems with concentration, memory, and counting. The authors note that the precise genotype–phenotype correlation in 2p15 deletion syndrome is not understood and that the literature mainly mentions the larger 2p15p16.1 syndrome. No other abstracts in the set address chromosome 2p16.1-p15 deletion syndrome directly. The other abstracts describe unrelated chromosomal conditions: a 22q13 deletion from a maternal inversion, a 4 Mb deletion in trichorhinophalangeal syndrome type I, and a 1p22p32 deletion with moderate developmental delay. None of these provide data on survival, response rates, or sample sizes for 2p16.1-p15 deletion syndrome.
The 2024 report is a single case, so no generalisable conclusions about the syndrome can be drawn from it. The authors state that the syndrome is genetically heterogeneous and that its features are mainly mild, but they also call for wider study because the genotype–phenotype correlation is not understood. No treatment or intervention is mentioned in any of the abstracts.
What is still missing is a systematic collection of cases with defined breakpoints and gene content, funding for genotype–phenotype studies that can distinguish the effects of individual deleted genes, and a trial design that could test any targeted therapy. Without patient stratification by deletion size and gene content, the natural history and clinical management of 2p16.1-p15 deletion syndrome remain poorly defined.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Dysmorphology · 2008 · 77 citations
Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome
AbstractWe describe a 10-month-old boy with 22q13 deletion syndrome. Chromosomal analysis showed a partial duplication of 22p11.2-pter and a terminal deletion of 22q13.31-qter. Maternal chromosomal analysis showed a pericentric inversion of chromosome 22, with breakpoints at p11.2 and q13.31 [inv(22)(p11.2q13.31)]. The deleted chromosome resulted from a recombinant chromosome inherited from his mother. This is a rare case of 22q13 deletion syndrome associated with parental pericentric inversion of chromosome 22.
Journal of Medical Genetics · 1997 · 77 citations · open access
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.
AbstractWe report on an 11 year old girl with trichorhinophalangeal syndrome type I (TRPS1), postaxial polydactyly of the fingers, and a de novo paracentric inversion on the long arm of chromosome 8 involving bands q13.1 and q24.11. Molecular analysis using FISH and polymorphic DNA markers detected an approximately 4 Mb, cytogenetically unidentified deletion occurring between two STSs markers, AFMB331YA9 and D8S1200, around the region of the distal inversion breakpoint. Although the deletion is large, mental retardation was not present in the patient. This is the first report of a cryptic deletion in a TRPS1 patient, both ends of which were analysed at the molecular level. The data obtained are useful for defining the location of the putative mental retardation gene(s) in TRPS1 and Langer-Giedion syndrome (TRPS2), as well as a locus for postaxial polydactyly.
American Journal of Medical Genetics Part A · 2002 · 16 citations
Interstitial deletion of the short arm of chromosome 1: Attempt to establish a clinical phenotype (46,XX,del (1)(p22p32))
AbstractA girl with a de novo interstitial deletion of the short arm of chromosome 1 (46,XX,del (1)(p22p32) is described with moderate developmental delay and minor phenotypic abnormality. These clinical manifestations are compared to previously reported patients with interstitial deletion of chromosome 1, in an attempt to identify a clinical phenotype which seems quite different from the syndrome linked to more terminal deletion of chromosome 1p, and perhaps from more proximal 1p deletion phenotype.
The Application of Clinical Genetics · 2024 · 3 citations · open access
Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report
AbstractIntroduction: 2p15p16.1 microdeletion syndrome was described for the first time in 2007. The size of the microdeletion is variable and encompasses several genes, like XPO1, USP34, BCL11A, REL, PAPOLG, PEX13, COMMD1, B3GNT2 , and EHBP1 . Features of the syndrome include short stature, microcephaly, hypotonia, psychomotor developmental delay, anomalies of the fingers of the upper and lower limbs, dysmorphic features like receding forehead, broad nasal bridge, telecanthus, ptosis, flat philtrum, small mouth with a high, narrow palate and everted lower lip. The precise genotype–phenotype correlation in 2p15 deletion syndrome is not understood. The aim of the study is to present the patient’s medical history and the diagnostic process. Case Presentation: A boy aged 9 was admitted to the Genetic Outpatient Clinic due to dysmorphic features and mild mental retardation. Full lips, broad nasal root, very light hair, excessively developed subcutaneous tissue, joint laxity, postural defect, flat-valgus foot with sandal gap, brachydactyly, and problems with concentration, memory, and counting were found. Diagnosis was based on microarray testing, and copy-number variation analysis was performed using CytoScan 750K array. Genetic imbalance in the form of a deletion within the short arm of chromosome 2 in the 2p15 region (containing 50 kbp) was shown. The microdeletion covers 2 genes: USP34 and XPO1 . Parents were not carriers of that mutation. Conclusion: The phenotypic features presented by the patient were reflected in the genetic test. 2p15 microdeletion syndrome is genetically heterogeneous with possible de novo occurrence, as in the presented case. The precise genotype–phenotype correlation in 2p15 deletion syndrome should be widely studied because in the literature there is mainly mentioned 2p15p16.1 syndrome. Even though 2p15 microdeletion syndrome is a rare discovery and its features are mainly mild, it is necessary to pay special attention to them to refer patients to genetic counseling to make an accurate diagnosis. Keywords: 2p15 microdeletion syndrome, dysmorphia, mental retardation, microarrays, XPO1 , USP34
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
