DeCure for Mosaic variegated aneuploidy syndrome 2
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for mosaic variegated aneuploidy syndrome 2 — 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 moduleMosaic variegated aneuploidy syndrome 2 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 mosaic variegated aneuploidy syndrome 2 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
centrosomal protein 57 (CEP57) — CEP57 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8IBH · 2.1 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Mosaic variegated aneuploidy syndrome is defined by mosaicism for several different aneuploidies affecting many chromosomes, with or without premature centromere division. By 2005, 28 cases had been reported, and the first case without microcephaly was described. That patient had craniofacial dysmorphism, growth retardation, and developmental delay, with trisomy 18, 19, and 8 found in blood lymphocytes and fibroblasts, and no premature centromere division. The authors concluded that microcephaly is not mandatory for the diagnosis.
A 2018 case report noted that mosaic variegated aneuploidy should be considered when mosaic aneuploidies are observed on karyotype, particularly in the context of short stature. A 1999 report described a 23-year-old woman with 45,X/47,XX,+18 constitutional mosaicism. She had slightly delayed psychomotor development, attended school until 14, and developed secondary amenorrhoea at 18 after regular menses from age 11. Her birth weight was 3600 g and there was no family history of chromosome disorders.
No drug treatment is mentioned in any of these abstracts. There are no data on survival, response rates, or sample sizes beyond single-case descriptions. What is missing is any clinical trial, any drug tested, any patient stratification, and any funding for therapeutic development. The literature remains purely descriptive cytogenetic reporting.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2005 · 40 citations
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome
AbstractThe phenotype of mosaic variegated aneuploidy (MVA) syndrome is characterized by severe microcephaly, growth deficiency, mental retardation, and mild physical anomalies. The MVA syndrome is associated with mosaicism for several different aneuploidies involving many different chromosomes with or without premature centromere division (PCD). To date 28 cases of MVA syndrome have been reported. We report the first case of MVA syndrome without microcephaly. The clinical features in our patient included craniofacial dysmorphic features, growth retardation, and developmental delay. Cytogenetics analyses and FISH studies showed multiple aneuploidy with trisomy 18, 19, and 8, respectively in blood lymphocyte and fibroblasts without PCD. This case is compared with the other of MVA syndrome previously reported in literature. From this case report, we suggest that microcephaly is not mandatory for the diagnosis of MVA syndrome.
American Journal of Medical Genetics · 2002 · 26 citations
Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects
AbstractWe describe a 12-year-old boy with mosaic variegated aneuploidy (MVA), subnormal response to growth hormone (GH) stimulation testing, and short stature. In addition to features more commonly described in MVA such as microcephaly, cognitive deficits, and certain facial features, he also has features not commonly reported in MVA, including short limb segments, epidermoid cysts, ventricular septal defect, and subaortic stenosis. Chromosomal analysis revealed hyperdiploid chromosome numbers ranging from 47 to 70; modal number 50, in 24% of the metaphases. This case demonstrates that although the phenotype of MVA almost always includes growth failure, microcephaly, and mental retardation, additional features may vary greatly across individuals. His clinical features and course suggest that in addition to GH deficiency, he may have an intrinsic inability of the growth plate to respond to growth hormone.
Clinical Case Reports · 2018 · 19 citations · open access
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
AbstractThis case highlights an important lesson for laboratory genetic testing. Geneticists and Genetic Counselors should be aware that although rare, mosaic variegated aneuploidy should be considered if mosaic aneuploidies are observed on karyotype, particularly in the context of short stature.
Journal of Medical Genetics · 1999 · 10 citations · open access
45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines
AbstractEditor—Constitutional mosaicism for two distinct chromosome aneuploidies is a rare cytogenetic abnormality. Usually in such cases, an autosomal aneuploidy is associated with a gonosomal aneuploidy. Little is known about the sequence of errors leading to such complex conditions. The only available studies addressing this issue concern three mosaic autosomal/gonosomal cases involving chromosome 8 (two cases) and chromosome 21 (one case), in all of which chimerism could be ruled out.1 2 A mitotic origin was inferred for both mosaic trisomy 8 cases,1 whereas the initial error in the trisomy 21 mosaic most likely occurred at meiosis.2
So far, trisomy 18 combined with monosomy X has been observed in three cases.3-5 We have recently observed a fourth patient with mosaic monosomy X/trisomy 18. We report the clinical and cytogenetic characteristics and the results of molecular analysis, which was undertaken in order to determine the origin of the aneuploid cell lines.
The female proband was the second child of healthy, unrelated parents. There was no family history of congenital anomalies or chromosome disorders. The father was 32 and the mother 34 years old at the time of her birth. She was born at term after an uneventful pregnancy and her birth weight was 3600 g. Psychomotor development was slightly delayed and she attended school up to the age of 14 years. Menarche occurred at 11 years, with regular menses up to 15 years. Thereafter, menses became progressively less frequent, until secondary amenorrhoea developed at 18 years of age.
The patient was referred for clinical and cytogenetic evaluation at the age of 23 …
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.
