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282 Possible Causes for 4q12, CHIC2, deletion, gene

Did you mean: 4q12, CHIC2, delusion, gene

  • Chronic Eosinophilic Leukemia

    Retrospectively, a CHIC2 deletion and the FIP1L1/PDGFRalpha fusion gene-product were demonstrable by FISH analysis and RT-PCR, respectively.[ncbi.nlm.nih.gov] Bone marrow biopsy showed clonal cytogenetic abnormality consisting of deletion of the long arm of chromosome 16 (16q22).[ncbi.nlm.nih.gov] Potentially, other PDGFR fusion genes with the 18-bp bacterial gene segment could arise. Indeed, lateral gene transfer from Marinobacter sp.[biomarkerres.biomedcentral.com] Fluorescence in situ hybridization was used to confirm the 4q12 deletion.[ncbi.nlm.nih.gov]

  • Hypereosinophilic Syndrome

    An FIP1L1/PDGFRA fusion gene associated with tyrosine kinase activity and resulting from an interstitial deletion at the CHIC2 site on chromosome 4 is responsible for the[symptoma.com] The deleted region involved the 5'-upstream sequences and exons 1-4 of the LUZP2 gene, which encodes a leucine zipper protein.[ncbi.nlm.nih.gov] Some cases of HES are caused by the FIP1L1/PDGFRA fusion gene and respond to imatinib.[ncbi.nlm.nih.gov] […] abnormality, leading to the identification of a fusion of the Fip1-like 1 (FIP1L1) gene to the PDGFRalpha (PDGFRA) gene generated by an interstitial deletion on chromosome 4q12[ncbi.nlm.nih.gov]

  • Myeloid Neoplasm Associated with FGFR1 Rearrangement

    KEYWORDS: CHIC2; Eosinophilia; FGFR1; PDGFRA; PDGFRB Publication type, MeSH terms, Substances Publication type Review MeSH terms Eosinophilia/complications* Eosinophilia/genetics[ncbi.nlm.nih.gov] Eosinophilia with PDGFRB gene rearrangement and isolated del 5q; an extremely rare presentation of myeloid neoplasm.[actamedicainternational.com] Ancillary Article Information Format Available Full text: HTML PDF Request Permissions Keywords Eosinophilia; FGFR1; PDGFRA ; PDGFRB ; CHIC2 Publication History Issue online[onlinelibrary.wiley.com] This fusion gene is the consequence of a cryptic 800kb interstitial deletion within chromosome band 4q12 that deletes the CHIC2 (cysteine-rich hydrophobic domain 2) gene.[beaumontlaboratory.com]

  • 17q11 Microdeletion Syndrome

    An apparently common centromeric deletion breakpoint was shared by all of the patients, whereas a different telomeric breakpoint defined a deletion interval of 0.8-3 Mb.[ncbi.nlm.nih.gov] Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.[moh-it.pure.elsevier.com] […] of 3q27 Gain of chromosome 12 Loss of TP53 (17p13.1) BCL6 rearrangement (3q27) Myeloid/Lymphoid Neoplasms with Eosinophilia and Gene Rearrangement PDGFRA rearrangement (4q12[wellingtongenetics.co.nz] Term Name: chromosome 17q11.2 deletion syndrome, 1.4Mb Search Ontology: Synonyms: 17q11 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome NF1 microdeletion[zfin.org]

    Missing: CHIC2
  • Trisomy 17p

    Synovial sarcoma] 882F86 88271, 88271, 88275 ALK gene rearrangement 2p23 [lung cancer] 882F87 88271, 88271, 88275 BCL6 gene rearrangement 3q27 882F88 88271, 88271, 88275 FIP1L1/CHIC2[slh.wisc.edu] Another common misunderstanding has to do with “how many deleted cells does it take to call a patient 17p deleted?”[cll-nhl.com] […] of a gene within the duplication.[ncbi.nlm.nih.gov] As the deleted DNA region includes the coding region for a peripheral myelin gene ( PMP22 ), we used single strand conformation analysis to examine this gene for mutations[doi.org]

  • Piebaldism

    Therefore, deletion of the KIT and PDGFRA genes may account for the piebald phenotype in this patient.[ncbi.nlm.nih.gov] By review reported individuals with interstitial deletions extending telomeric from 4q12 have syndromic intellectual disability with variable piebaldism.[ncbi.nlm.nih.gov] Three of these patients had evident heterozygous deletions of the SLUG gene encompassing the entire coding region. Real-time PCR confirmed the deletion in all cases.[ncbi.nlm.nih.gov] […] reported Prognosis in contrast to vitiligo, piebaldism is both congenital and non-progressive Inborn conditions a few patients with interstitial deletions of chromosome 4q12[AtlasGeneticsOncology.org]

    Missing: CHIC2
  • Leukemia

    FISH for the CHIC2 deletion and/or reverse transcription polymerase chain reaction (RT-PCR) is used to detect the cytogenetically occult FIP1L1-PDGFRA fusion.[doi.org] Patients in AP/BC of CML with der(9) deletion showed poor response to IM therapy; however, patients with der(9) deletion in the early phases of CML responded well to IM treatment[ncbi.nlm.nih.gov] WITHIN just eight days of starting a novel gene therapy, David Aponte's "incurable" leukaemia had vanished.[web.archive.org] […] myelomonocytic leukemia (CMML) with eosinophilia, or less commonly, as CEL. 38 – 41 More recently, the gene that encodes the alpha chain of PDGFR, PDGFRA , located at chromosome band 4q12[doi.org]

  • Pseudohypoparathyroidism

    EPHA3, EIF4A2, PER1, ELK4, EPHB1, PDCD1LG2, DDX10, PAFAH1B2, DAXX, DDIT3, PBRM1, PDCD1, DDX5, PCSK7, PATZ1, DDX6, PDE4DIP, CNTRL, COPB1, CRTC3, CRTC1, OMD, NUP98, CNOT3, CHIC2[mendelian.co] , within the deletion previously reported in rare families with PHP1b.[ncbi.nlm.nih.gov] CONCLUSION: This report demonstrates the first evidence for a pathogenic mutation in exon 3 of the GNAS gene.[ncbi.nlm.nih.gov] It is caused by heterozygous mutations in GNAS gene.[ncbi.nlm.nih.gov]

    Missing: 4q12
  • Hawkinsinuria

    Preimplantation genetic diagnosis-chromosome aneuploidy and ploidy research FISH Prader-Willi / Angelman Syndrome (SNRPN) (15q11.2-q13 Microdeletion) FISH PDGFRB Analysis FISH FIP1L1/CHIC2[nextgenetic.com] Large homozygous deletions appear to be detectable.[preventiongenetics.com] We performed analyses of the HPD gene in a patient with tyrosinemia type III and two unrelated patients with hawkinsinuria.[ncbi.nlm.nih.gov] Panhypopituitarism, X-linked 312000 S P110 2q37.1 Hepatic venoocclusive disease with immunodeficiency 235550 S RD5A2 2p23.1 Pseudovaginal perineoscrotal hypospadias 264600 S RD5A3 4q12[institutobernabeu.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A

    Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.[uniprot.org] LGMDR4 ({604286}), previously symbolized LGMD2E, is caused by mutation in the beta-sarcoglycan gene (SGCB; {600900}) on 4q12.[diseaseinfosearch.org] 2p13.2 Autosomal recessive 603009 NG_008694.1, NM_001130978.1 SGCA Alfa-sarcoglycan 17q12-q21.33 Autosomal recessive 600119 NT_010783.13, NM_000023.2 SGCB Beta-sarcoglycan 4q12[lumc.nl] […] limb-girdle muscular dystrophy type 2G Autosomal recessive limb girdle muscular dystrophy type 2A Catecholaminergic polymorphic ventricular tachycardia 3M syndrome 8p11.2 deletion[csbg.cnb.csic.es]

    Missing: CHIC2