- Oct 2024
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Disease: Von Willebrand Disease (VWD) type 1
Patient(s): 13 yo, female and 14 yo, female, both Italian
Variant: VWF NM_000552.5: c.820A>C p. (Thr274Pro)
Dominant negative effect
Heterozygous carrier
Variant located in the D1 domain on VWF
Phenotypes:
heterozygous carriers have no bleeding history
reduced VWF levels compatible with diagnosis of VWD type 1
increased FVIII:C/VWF:Ag ratio, suggests reduced VWF synthesis/secretion as possible phathophysiological mechanism
Normal VWFpp/VWF:Ag ratio
Modest alteration of multimeric pattern in plasma and platelet multimers
plasma VWF showed slight increase of LMWM and decrease of IMWM and HMWM
Platelet VWF showed quantitative decrease of IMWM, HMWM, and UL multimers
In silico analysis:
SIFT, ALIGN, GVD Polyphen 2.0, SNP&GO, Mutation Taster, Pmut all suggest damaging consequences.
PROVEAN and Effect suggest neutral effect
according to ACMG guidelines this variant was classified as pathogenic
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- Sep 2024
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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In silico analysis of pathogenicity
4 in silico prediction softwares classify as benign
Mentions according to ACMG guidelines classify variant as VUS initially
later reclassified as pathogenic
Tags
Annotators
URL
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- Aug 2022
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theconversation.com theconversation.com
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Yates, C., & Feil, E. (2021, February 1). Will coronavirus really evolve to become less deadly? The Conversation. http://theconversation.com/will-coronavirus-really-evolve-to-become-less-deadly-153817
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- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre
Gene: DICER1 PMCID: PMC8451242 PMID: 34552563 Pathogenic Inheritance Pattern: Autosomal Dominant MultipleDiseaseEntities Disease Entity: DICER1 syndrome, multinodular goitre, cystic nephroma, anaplastic renal sarcoma, Wilms tumour, differentiated thyroid carcinoma, gynandroblastoma, ciliary body medulloepithelioma, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, kidney cyst, pulmonary cyst, Sertoli-Leydig Cell Tumor. Mutation: Germline MultipleGeneVariants Variant & Clinvar IDs: c.3452_3453del (485534), c.316del (no ClinVar ID), c.171_172insAC (no ClinVar ID), c.3434del (no ClinVar ID), c.988C>T (933007), c.5388dup (no ClinVar ID) Zygosity: None provided. Case: At time of operation, the goitre patients living in Denmark were ages 21, 12, 21, 8, 14, and 16. Four underwent total thyroidectomies, and two underwent partial thyroidectomies. The patient originally aged 21 previously had a kidney cyst at age 14 and a pulmonary cyst at an unknown age. The patient aged 14 at time of partial thyroidectomy later manifested a Sertoli-Leydig Cell Tumor at age 15. All six patients were female. CasePresentingHPO: None provided. CasePreviousTesting: thyroidectomy gnomAD: ENSG00000100697.10, https://gnomad.broadinstitute.org/gene/ENSG00000100697 Mutation Type: Frameshift, Nonsense
Tags
- PMCID:PMC8451242
- DICER1
- Frameshift
- Germline
- MultipleGeneVariants
- Pathogenic
- Age:12
- c.3434del
- MultipleDiseaseEntities
- AutosomalDominant
- Gene:DICER1
- c.316del
- Age:21
- thyroidectomy
- goiter
- female
- ClinvarID:485534
- Age:8
- Mutation:Frameshift
- cancer
- Age:14
- c.171_172insAC
- gnomAD:ENSG00000100697.10
- c.5388dup
- ClinvarID:933007
- goitre
- Mutation:Nonsense
- Cohort
- ClinvarID:NotProvided
- Nonsense
- PMID:34552563
- c.988C>T
- c.3452_3453del
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome is an autosomal-dominant, familial pleiotropic tumor-predisposition disorder1 caused by pathogenic germline variants in DICER1, an essential component of the microRNA processing pathway.
GeneName: DICER1 PMID: 30715996 HGNCID: N/A Inherritence pattern: autosomal dominant Disease Entity: multiple gene variants mutation: germline Zygosity: N/A Variant: Not found Family Info: N/A
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- Apr 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Health care providers may consider the presence of DICER1 pathogenic variants when a female presents with a personal or family history of ovarian sex cord-stromal tumor
FAMILY INFORMATION: FEMALE PATIENTS WITH A PERSONAL OR FAMILY HISTORY OF OVARIAN TUMORS
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- Mar 2022
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twitter.com twitter.com
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CBC Podcasts. (2022, February 3). Today on #TheDoseCBC: a frank discussion about the new #Omicron sub-variant with virologist @angie_rasmussen, who says BA.2 isn’t necessarily more pathogenic—But we need to proceed with caution. Learn more: Http://bit.ly/3gnlPak https://t.co/NOp7MMwkwk [Tweet]. @cbcpodcasts. https://twitter.com/cbcpodcasts/status/1489315238822490118
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- Jan 2022
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www.theguardian.com www.theguardian.com
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I went to Portland, Oregon, to interview Prof Joel Nigg, who is one of the leading experts in the world on children’s attention problems, and he told me we need to ask if we are now developing “an attentional pathogenic culture” – an environment in which sustained and deep focus is harder for all of us.
: attentional pathogenic culture ; an environment in which sustained and deep focus is harder for all of us
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- Feb 2021
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science.sciencemag.org science.sciencemag.org
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Gordon, D. E., Hiatt, J., Bouhaddou, M., Rezelj, V. V., Ulferts, S., Braberg, H., Jureka, A. S., Obernier, K., Guo, J. Z., Batra, J., Kaake, R. M., Weckstein, A. R., Owens, T. W., Gupta, M., Pourmal, S., Titus, E. W., Cakir, M., Soucheray, M., McGregor, M., … Krogan, N. J. (2020). Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms. Science, 370(6521). https://doi.org/10.1126/science.abe9403
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