- 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
- Mutation type: Frameshift
- Gene: DICER1
- Multinodular goiter
- Zygosity: Heterozygous
- Ciliary body medulloepitheliomma
- Inheritance Pattern: Autosomal dominant
- Differentiated thyroid carcinoma
- Mutation type: Nonsense
- Mutation: Germline
- Wilm's tumor
- PMCID: PMC7859642
- Sertoli-Letdig Cell Tumor(SLCT)
- Nasal chondromesenchymal hemartoma
- Familial pleuropulmonary blastoma (PPB)
- Cervix embryonal rhabdomyosarcoma
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 gene is located on chromosome 14q32.13 and plays a crucial role in the control of protein translation; its product, dicer protein, is a ribonuclease (RNase) III endoribonuclease which is essential for the production of microRNAs (miRNA) which are formed by the cleavage of pre-miRNA or double-stranded RNA1–4. RNase III contains two domains, IIIa and IIIb which cleave 3p miRNA and 5p miRNA from the 3′ and 5′ pre-miRNA, respectively. These cleavages require magnesium ions at the interface between the IIIa and IIIb domains and the miRNA; this magnesium dependent catalytic processing occurs at specific residues, E1320, E1564, E1813 and D17092–4. miRNA has a pivotal role in regulating the expression of over 30% of protein-coding genes by its interaction with mRNA5. Given the impact of DICER1 in post-translational events, it is not entirely surprising that functional DICER1 is essential for vertebrate development as evidenced by developmental arrest and death of the embryo when both alleles are lost6,7. Conceptually, DICER1 can be regarded as either a tumor suppressor gene due to loss-of-function mutations or an oncogene due to gain-of-function mutations; it is thought to function as a haploinsufficient tumor suppressor gene with the loss of one allele leading to tumor progression but loss of both alleles having an inhibitory effect for tumor development implying that one intact allele is needed for cell survival8.A study led by one of the authors (DAH) identified germline loss-of-function DICER1 mutations affecting the RNase IIIb domain in affected families with pleuropulmonary blastoma (PPB)9, a rare dysembryonic lung malignancy of childhood which was not the only manifestation of this familial tumor predisposition syndrome; germline and somatic DICER1 mutations were subsequently identified in several other familial associated tumors in several extrapulmonary sites (Table 1). Individuals with germline DICER1 mutations also had non-neoplastic conditions including macrocephaly, renal structural anomalies, retinal abnormalities, dental perturbations, and the GLOW syndrome (global developmental delay, lung cysts, overgrowth and Wilms tumor). These associations encircle the DICER1 tumor predisposition syndrome (Online Mendelian Inheritance in Man numbers 606241, 601200 and 138800), with the estimation that 90% of those affected by this syndrome inherited a germline mutation from one of their parents, with a pattern of autosomal dominant inheritance10.
- Gene Name: DICER1 Syndrome (OMIM 606241, 601200)
- PMID: 34599283
- Hugo Gene Nomenclature Committee (HGNCID): N/A
- Inheritance Pattern: Autosomal Dominant
- Disease Entity: pleuropulmonary blastoma (PPB), Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations.
- Mutation: Germline
- Zygosity: Heterozygous
- Variant: has multiple variants associated with it
- Family Information: Germ cell tumors have been reported in family members
- Case: identified affected families w/ pleuropulmonary blastoma (PPB): germline and somatic DICER1 mutations also identified in other familial associated tumors
- CasePreviousTesting: numerous studies confirmed relationship b/t DICER1 variants in carriers and development of range neoplasms and non-neoplastic conditions
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DICER1 gene is located on chromosome 14q32.13 and plays a crucial role in the control of protein translation; its product, dicer protein, is a ribonuclease (RNase) III endoribonuclease which is essential for the production of microRNAs (miRNA) which are formed by the cleavage of pre-miRNA or double-stranded RNA1–4. RNase III contains two domains, IIIa and IIIb which cleave 3p miRNA and 5p miRNA from the 3′ and 5′ pre-miRNA, respectively. These cleavages require magnesium ions at the interface between the IIIa and IIIb domains and the miRNA; this magnesium dependent catalytic processing occurs at specific residues, E1320, E1564, E1813 and D17092–4. miRNA has a pivotal role in regulating the expression of over 30% of protein-coding genes by its interaction with mRNA5. Given the impact of DICER1 in post-translational events, it is not entirely surprising that functional DICER1 is essential for vertebrate development as evidenced by developmental arrest and death of the embryo when both alleles are lost6,7. Conceptually, DICER1 can be regarded as either a tumor suppressor gene due to loss-of-function mutations or an oncogene due to gain-of-function mutations; it is thought to function as a haploinsufficient tumor suppressor gene with the loss of one allele leading to tumor progression but loss of both alleles having an inhibitory effect for tumor development implying that one intact allele is needed for cell survival8.
Germline mutation Heterozygous Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations. Autosomal dominant PMID: 34599283 OMIM 606241, 601200)
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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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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Individuals who harbor germline pathogenic variants in DICER1 (MIM #601200) have an increased risk for a variety of benign and malignant tumors.
Gene name: DICER1 PMID: 31952842 HGNCID: none found Inheritance pattern: autosomal dominant Disease entity: cervical embryonal rhabdomyosarcoma and ovarian sex-cord stromal tumors Mutation: Germline Zygosity: heterozygous Variant: none found Family info: personal or family history of ovarian sex-cord stromal tumor Case: 64 females aged 2 to 72 years; non-Hispanic white families CasePresentingHPOs: benign/malignant tumors CasePreviousTesting: physical examination, hormone testing, pelvic ultrasound gnomAD: N/A mutation type: germline pathogenic variation
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- Jan 2022
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bio.libretexts.org bio.libretexts.org
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If the round pea parent is heterozygous, there is a one-eighth probability that a random sample of three progeny peas will all be round.
Please clarify how you calculated 1:8 ratio. One plant has rr and the other plant has Rr. You create a table and get two Rr and two rr which makes the probability of getting three Rr or RR zero.
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- Sep 2021
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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thermolabile variant of methylene-tetrahydrofolate reductase
Case: young adult, Korean GeneName: MTHFR HGNCgeneID: ArticleID: 23526309 InheritencePattern: No inheritance pattern DiseaseEntity: Hyperhomocysteinemia, strokes Mutation: Germline Zygosity: Homozygous ClinVarID: 187891, www.ncbi.nlm.nih.gov/clinvar/variation/187891/
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