MutationsFamilial hypercholesterolemiaGeneSupporting a heterozygous variantCompound heterozygous variantsVariantHomozygous and heterozygousGenotypeAlleleGeneticRecessiveVariantsMutation carriersPatientsVariationMiceKnockoutExonDominantDeficiencySpeciesConclusionsNonsenseDiagnosisSyndromeSignificantlyChildrenCasesTypeDifferenceEffectPatientMaleParents
Mutations14
  • Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. (nature.com)
  • Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. (nature.com)
  • Germline heterozygous GATA2 mutations underlie a complex disorder characterized by bone marrow failure, immunodeficiency and high risk to develop myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). (nih.gov)
  • In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. (hindawi.com)
  • Using targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations in TMC1 and MYO15A as the genetic causes of the hearing loss in those families. (hindawi.com)
  • Non-FA (or underlying FA) patients harboring heterozygous germline FA gene mutations may also face an increased risk of developing bone marrow failure, primary immunodeficiency disease, and hereditary cancer predisposition syndromes. (frontiersin.org)
  • Whole-exome sequencing (WES) verified RAD51C, BRIP1, PALB2 , and FANCG heterozygous germline mutations of the FA pathway, which were further confirmed in buccal swab samples by Sanger sequencing. (frontiersin.org)
  • 2014). Homozygous or compound-heterozygous mutations in the Parkin gene result in highly penetrant symptom expression, while heterozygous mutations have been predicted to predispose to disease symptoms with highly reduced penetrance (Huttenlocher et al. (unitn.it)
  • 2007). Considering the reported frequency of heterozygous mutations in the population (up to 3%), it is essential to have better estimates of the penetrance of these variants, and to investigate which risk markers manifest in carriers and are potentially useful for identifying those individuals at greater risk of neurodegeneration later in life. (unitn.it)
  • Furthermore, it is of great importance to test the causal link between heterozygous pathogenic mutations in Parkin and expressivity of molecular phenotypes in cellular models derived from mutation carriers. (unitn.it)
  • Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome. (pacb.com)
  • Genetic mutation detection was explored with next-generation sequencing, and compound heterozygous mutations in gene MSH6 c.3103C>T p.Arg1035Ter and c.3261dupC p.Phe1088LeufsTer were discovered. (pacb.com)
  • As the stoichiometry between Keap1 and Nrf2 is 2:1, we hypothesized that heterozygous Keap1 mutations could suppress wild-type Keap1 (Keap1 WT ) activity by functioning as a dominant-negative protein through heterodimerization of mutant Keap1 (Keap1 mutant ) with Keap1 WT . (elsevierpure.com)
  • With the exception of the extremely a computer simulation, we investigated rare mutations, only those individuals the effect on the population disease born to 2 gene carriers (heterozygotes or gene frequency and the frequencies of homozygotes) may develop thalassaemia heterozygous and homozygous individuals major. (who.int)
Familial hypercholesterolemia2
  • Familial hypercholesterolemia (FH) occurs in heterozygous genotypes with a mutated copy of the APOB , LDLR , or PCSK9 gene. (healthline.com)
  • Metacarpophalangeal joint tendon xanthomas in a 45-year-old man with heterozygous familial hypercholesterolemia. (medscape.com)
Gene16
  • If the two versions are different, you have a heterozygous genotype for that gene. (healthline.com)
  • This report presents information on two unrelated Japanese patients who exhibit early onset flecked retinal dystrophy with compound heterozygous variants in the RPE65 gene. (molvis.org)
  • We investigated a clinical case of variant Creutzfeldt-Jakob Disease in a person heterozygous for methionine/valine at codon 129 of the prion protein gene and identified the same strain properties in variant Creutzfeldt-Jakob disease in methionine homozygous persons and in bovine spongiform encephalopathy. (cdc.gov)
  • In 2016, a definite case of clinical variant Creutzfeldt-Jakob disease (vCJD) in a person heterozygous for methionine/valine (MV) at codon 129 of the prion protein gene ( PRNP 129MV) was reported in the United Kingdom ( 1 ). (cdc.gov)
  • Objective To describe a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome associated with a heterozygous D90A mutation in superoxide dismutase (SOD1) gene. (bmj.com)
  • The difference between the heterozygous and homozygous phenotypes is likely related to gene product dosage effect. (bmj.com)
  • Altered behaviour, dopamine and norepinephrine regulation in stressed mice heterozygous in TPH2 gene. (ox.ac.uk)
  • A person with one abnormal gene is called heterozygous for that gene. (medlineplus.gov)
  • If a child receives an abnormal recessive disease gene from both parents, the child will show the disease and will be homozygous (or compound heterozygous) for that gene. (medlineplus.gov)
  • We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable, such as large heterozygous deletions. (sunderland.ac.uk)
  • We found heterozygous single- or multi-exon deletions in IL7R, a known disease gene for autosomal recessive T-B+NK+ SCID, in four families (seven patients). (sunderland.ac.uk)
  • In three families (five patients), these deletions coexisted with a heterozygous splice site or nonsense mutation elsewhere in the same gene, consistent with compound heterozygosity. (sunderland.ac.uk)
  • A 133 bp fragment, spanning exon 11 of the APC gene was amplified, and Rsal digestion of the PCR product defined the alleles as either homozygous 133 bp (Rsa(-/-)) or 87 and 46 bp (Rsa(+/+)) fragments, and heterozygous (Rsa(+/-)) exhibiting the three fragments. (who.int)
  • RESULTS: Among 79 patients, there were 16 heterozygous (20%) for APC gene. (who.int)
  • ABSTRACT We used computer simulation to determine variation in gene, heterozygous and homozygous frequencies induced by 4 different approaches to thalassaemia. (who.int)
  • Heterozygous frequency varies in parallel with gene frequency. (who.int)
Supporting a heterozygous variant1
  • if the classic concept is strictly ported to NGS, one would expect to see a 50:50 reads ratio supporting a heterozygous variant, and a 100:0 reads ration supporting a homozygous one. (biostars.org)
Compound heterozygous variants1
  • The results indicate that the recovery of combined or residual cone responses might be associated with a mild form of RPE65 -related early onset flecked retinal dystrophy with new compound heterozygous variants. (molvis.org)
Variant3
  • instead, you always depend on a variant caller which estimates this ratio for you and determines whether the variant is homozygous or heterozygous. (biostars.org)
  • Altogether, we identified rare heterozygous GDF6 variants in 1.6% of all renal anomaly patients and 5.4% of renal anomaly patients additionally manifesting skeletal, ocular, or auricular abnormalities, adding renal hypodysplasia and fusion to the phenotype spectrum of GDF6 variant carriers and suggesting an involvement of GDF6 in nephrogenesis. (helmholtz-hzi.de)
  • A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. (cegat.com)
Homozygous and heterozygous2
  • Note: I am well aware about homozygous and heterozygous concept. (biostars.org)
  • The diagnosis of both homozygous and heterozygous FH is based primarily on the finding of severe LDLc elevations in the absence of secondary causes of hypercholesterolemia. (medscape.com)
Genotype4
  • A homozygous genotype is the opposite of a heterozygous genotype. (healthline.com)
  • In a heterozygous genotype, the two different alleles interact with each other. (healthline.com)
  • Recent studies in which researchers used protein misfolding cyclic amplification in CSF were positive in this case of vCJD, but not in sCJD cases, including those with a heterozygous genotype ( 2 ). (cdc.gov)
  • the majority of offspring inherit the allele despite the heterozygous genotype of the parent. (lu.se)
Allele3
  • For example, being heterozygous for hair color could mean you have one allele for red hair and one allele for brown hair. (healthline.com)
  • Overall, these results suggest that tumors are unlikely to arise directly from BRCA2 heterozygous cells without other genetic events such as loss of the wild-type BRCA2 allele and/or loss of p53 function or other cell cycle inhibitors. (ijbs.com)
  • However, it may be possible that tumor growth can be initiated in heterozygous cells prior to loss of the second, wild-type allele. (ijbs.com)
Genetic5
  • Let's explore what it means to be heterozygous and the role it plays in your genetic makeup. (healthline.com)
  • Genetic analysis demonstrated a heterozygous D90A-SOD1 mutation. (bmj.com)
  • Heterozygous parents can be asymptomatic but have clinically obvious macular phenotypes with or without peripheral retinal findings, which can be helpful in making the genetic diagnosis in affected children. (bmj.com)
  • We report the case of a pair of identical, male, monozygotic twins, 138 days old, who suddenly died, meeting the full criteria of SSIDS and where a genetic screen was performed, resulting in a heterozygous nonsense SCN5A mutation (W822X) in both twins. (unife.it)
  • if the spouse is heterozygous, their children should then have genetic testing for this disorder. (msdmanuals.com)
Recessive2
  • On the other hand, if you're heterozygous for a recessive mutation, you won't get it. (healthline.com)
  • Sickle cell anemia is also considered a recessive condition, but heterozygous carriers have increased resistance to malaria in early childhood, which could be described as a related dominant condition. (wikipedia.org)
Variants2
  • WES identified compound heterozygous RPE65 variants in both patients. (molvis.org)
  • Rare heterozygous GDF6 variants in patients with renal anomalies. (helmholtz-hzi.de)
Mutation carriers3
  • and (2) by evaluating mitochondrial integrity, including mitochondrial DNA variation and mitochondrial function, in diverse cellular models of heterozygous Parkin mutation carriers. (unitn.it)
  • I was able to show that heterozygous Parkin mutation carriers in the general population have increased occurrence of diabetes and decreased heart rate. (unitn.it)
  • Additionally, chromosomal rearrangements, increased rates of sister chromatid exchanges and double strand breaks have been observed in cells from heterozygous mutation carriers of BRCA2 [ 17 , 18 ]. (ijbs.com)
Patients7
  • Most patients with heterozygous TPMT or NUDT15 deficiency tolerate the recommended dosage, but some require a dose reduction based on adverse reactions. (drugs.com)
  • Patients who are heterozygous for both TPMT and NUDT15 may require more substantial dose reductions. (drugs.com)
  • Reduce elevated total-C, LDL-C, apo B, and TG levels and increase HDL-C in adult patients with primary hyperlipidemia (heterozygous familial and nonfamilial) and mixed dyslipidemia ( 1.2 ). (nih.gov)
  • In our cohort, about a quarter of T-B+NK+ SCID patients (26%) had such compound heterozygous IL7R deletions. (sunderland.ac.uk)
  • The patients with autosomal dominant accelerated bone remodeling have familial expansile osteolysis, early-onset Paget's disease of bone, expansile skeletal hyperphosphatasia, or panostotic expansile bone disease due to heterozygous 18-, 27-, 15-, and 12-bp insertional duplications, respectively, within exon 1 of TNFRSF11A that encodes the signal peptide of RANK. (wustl.edu)
  • The frequency of heterozygous cases in control group was significantly higher than in patients group (p = 0.018), whereas Rsa (-/-) were the most frequent in patients group (p = 0.008). (who.int)
  • Affected patients are homozygous or compound heterozygous. (msdmanuals.com)
Variation2
  • BTW, all variation can be heterozygous, in most cases it's just unlikely for them all to be heterozygous at the same time. (biostars.org)
  • Secondly, progeny variation across the heterozygous individuals is lineage-specific dependent and some difference is found among the individuals within a family. (arccjournals.com)
Mice3
  • Female mice heterozygous for Ikk gamma/Nemo deficiency develop a unique dermatopathy characterized by keratinocyte hyperproliferation, skin inflammation, hyperkeratosis, and increased apoptosis. (nih.gov)
  • Recently, we showed excessive aggression and altered serotonin brain metabolism in heterozygous Tph2-deficient male mice (Tph2+/-) after predator stress exposure. (ox.ac.uk)
  • However, the chronic pathologic effect of MWCNTs delivered to the lungs of p53 heterozygous (p53+/-) mice has not been investigated. (cdc.gov)
Knockout1
  • Scn1a heterozygous knockout (Scn1a +/− ) rats showed a reduced expression of voltage-gated sodium channel alpha subunit 1 protein in the brain and heat-induced seizures. (figshare.com)
Exon3
  • Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. (sunderland.ac.uk)
  • We show that heterozygous IL7R exon deletions are common in T-B+NK+ SCID and are detectable by WES. (sunderland.ac.uk)
  • Instead, a unique heterozygous 15-bp insertional tandem duplication (87dup15) within exon 1 of TNFRSF11A predicted the same pentapeptide extension of RANK that causes expansile skeletal hyperphosphatasia (84dup15). (wustl.edu)
Dominant1
  • If you're heterozygous for a dominant disorder, you have a higher risk of developing it. (healthline.com)
Deficiency1
  • Increased expression of p53 in the mimicked heterozygous cells was observed, perhaps in response to BRCA2 deficiency. (ijbs.com)
Species2
  • Potato species are tetraploid and highly heterozygous. (mpg.de)
  • These results reveal how both cell-intrinsic and cell-extrinsic factors influence C. albicans microevolution, and provide a quantitative picture of genome dynamics in this heterozygous diploid species. (elsevierpure.com)
Conclusions1
  • CONCLUSIONS: Our results suggest that Haplotype Inference by Pure Parsimony can be solved efficiently by the SAT approach, even for data sets of unphased SNP from heterozygous polyploids. (mpg.de)
Nonsense1
  • Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome. (unife.it)
Diagnosis1
  • A probable diagnosis of heterozygous FH can be made if the LDLc level is greater than 330 mg/dL or if tendon xanthomas are present in a patient with an LDLc level above the 95th percentile. (medscape.com)
Syndrome1
  • LDL receptor analysis can be used to identify the specific LDL receptor defect, and LDL receptor or apoB-100 studies can help distinguish heterozygous FH from the similar syndrome of familial defective apoB-100. (medscape.com)
Significantly1
  • Interestingly, the growth rate of the mimicked BRCA2 heterozygous cell line was significantly lower than that of control cells. (ijbs.com)
Children4
  • Children with heterozygous FH do not have symptoms related to coronary heart disease (CHD), and most do not develop tendon xanthomas or corneal arcus. (medscape.com)
  • If a heterozygous tall male marries a homozygous short female, what would be the appearance of the children? (justaaa.com)
  • Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Children 6 Through 11 Years of Age with Cystic Fibrosis Heterozygous for F508del and a Minimal Function Mutation: A Phase 3b, Randomized, Placebo-controlled Study. (bvsalud.org)
  • To further evaluate the efficacy and safety of ELX/TEZ/IVA in children 6 through 11 years of age with cystic fibrosis heterozygous for F508del and a minimal function CFTR mutation (F/MF genotypes ) in a randomized, double-blind, placebo-controlled phase 3b trial. (bvsalud.org)
Cases1
  • In 16 informative heterozygous LOH was detected in 7 cases: 2/5 with GERD, 3/7--with BE, 1/2--with BE+dysplasia and 1/2--with ADC. (who.int)
Type1
  • If two heterozygous yellow seed squash were crossed, what type of seeds would result? (justaaa.com)
Difference1
  • No difference in RAD51 subcellular localization and focus formation was observed between control and mimicked heterozygous cell lines. (ijbs.com)
Effect2
  • After two parents mating, the variations of their offspring will occur in the nucleotide sequence compared to their parents, which are called biological heterozygous effect. (arccjournals.com)
  • In summary, Heterozygous effect is the key reason for the formation of biodiversity on the earth. (arccjournals.com)
Patient1
Male1
  • If a heterozygous tall male marries a homozygous short. (justaaa.com)
Parents1
  • In our view, biological heterozygous effects at least follow the below rules: Firstly, the contribution of the outcome of traits passed from parents to offspring is not equal. (arccjournals.com)