- Feb 2025
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www.sciencedirect.com www.sciencedirect.com
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Disease: Von-willebrand Disorder (2N)
Patient: 32 yo, male
Variant: VWF NM_000552.5 c:2527C>T, p.(Arg760Cys), exon 17, noted to be dominant effect
Note: Proband also has an Arg91Gln mutation in exon 20 of VWF too.
Phenotypes: Mild bleeding history, epistaxis, bleeding gums, bleeding after tooth extraction. 11 years old had severe hemorrhage following tonsillectomy. Previous diagnosis of hemophilia A.
Family: father has history of epistaxis but never eamined prior to study. Father has the Arg760Cys mutation at heterozygous level. Mother is asymptomatic and classified as hemophilia A carrier following hemophilia A diagnosis in son. Mother also has the Arg91Gln mutation in exon 20 at heterozygous level.
Molecular Phenotypes: mild decrease in plasma FVIII and VWF levels, normal platelet VWF content, decreased FVIII binding capacity of VWF. Causes retention of pro-VWF(suggest defects in the maturation process of VWF). Abnormal VWF and platelet GPIb interaction(documented by impaired or absent RIPA and decreased VWF:RCo).
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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 is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1
GeneName: DICER1 PMCID: PMC7859642 HGNCID: Unavailable Inheritance Pattern: Autosomal dominant. Disease Entity: Familial pleuropulmonary blastoma (PPB), cervix embryonal rhabdomyosarcoma, multinodular goiter, nasal chondromesenchymal hemartoma, Ciliary body medulloepithelioma, Sertoli-Leydig Cell Tumor (SLCT), differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, cystic nephroma, Wilm's tumor and sarcomas of different sites including, amongst others, the uterine cervix, kidney and brain. Mutation: Germline Zygosity: Heterozygose Variant: No ClinVarID present. Family Information: No family outline Case: No specified information of patients included. CasePresentingHPO's: n/a CasePrevious Testing: n/a gnomAD: n/a Mutation Type: nonsense, frameshift, or splice affected.
Tags
- Multinodular goiter
- Familial pleuropulmonary blastoma (PPB)
- Ciliary body medulloepitheliomma
- PMCID: PMC7859642
- Zygosity: Heterozygous
- Nasal chondromesenchymal hemartoma
- Mutation type: Nonsense
- Sertoli-Letdig Cell Tumor(SLCT)
- Mutation: Germline
- Wilm's tumor
- Mutation type: Frameshift
- Inheritance Pattern: Autosomal dominant
- Gene: DICER1
- Differentiated thyroid carcinoma
- Cervix embryonal rhabdomyosarcoma
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder.
gene name: DICER 1 PMID (PubMed ID): 33570641 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a Family Information: n/a Case: people of all sexes, ages, ethnicities and races participated CasePresentingHPOs: individuals with DICER1-associated tumors or pathogenic germline DICER1 variants were recruited to participate CasePreviousTesting: n/a gnomAD: n/a
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