• confirmed with skin tissue analyses that port-wine nevi result from somatic mosaicism of GNAQ on chromosome 9q21.2. (aap.org)
  • One variant occurred in two sibs of healthy parents with presumed somatic mosaicism, another segregated with the disease in three affected family members, and the remaining five occurred de novo in sporadic patients. (aau.dk)
  • are unstable, exhibiting somatic mosaicism and variable penetrance. (iastate.edu)
  • Many of these patients exhibit somatic mosaicism, causing their phenotype. (msdmanuals.com)
  • Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes. (upd-tl.com)
  • Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low. (biomedcentral.com)
  • Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. (biomedcentral.com)
  • Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. (lu.se)
  • Functional mosaicism may be caused by either male-lethal or nonlethal X-linked mutations. (nih.gov)
  • Similarly, autosomal mutations resulting in genomic mosaicism may be either lethal or nonlethal. (nih.gov)
  • [ 6 ] However, defective Th17 responses may be seen in classic disease without STAT3 mutations, with the extent of the defective Th17 response postulated to determine the clinical phenotype. (medscape.com)
  • The level of heteroplasmy of a pathogenic mtDNA mutation correlates with the severity of the clinical phenotype and mosaic distributions of mutations across an individual have been reported to lead to organ-specific dysfunction [ 4 ]. (biorxiv.org)
  • 5 Mutation testing of blood specimens is not generally useful for somatic mosaic conditions, and since GNAQ mutations are responsible for both isolated port-wine lesions and Sturge-Weber syndrome, the presence of a mutation does not predict the phenotype. (aap.org)
  • We previously described a group of patients initially classified with OI type IV who had a discrete phenotype including hyperplastic callus formation without evidence of mutations in type I collagen. (wiley.com)
  • Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. (stanford.edu)
  • Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). (stanford.edu)
  • To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
  • Analysis of the genotype-phenotype correlation showed that the early onset of high myopia with vitreous abnormalities may serve as a key indicator of Stickler syndrome, while the existence of mandibular protrusion in pediatric patients may be an efficient indicator for the absence of mutations in COL2A1 and COL11A1 . (molvis.org)
  • Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
  • Somatic activating mutations in the phosphatidylinositol-3- kinase/AKT/mTOR pathway underlie different segmental overgrowth phenotypes. (longdom.org)
  • Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. (lu.se)
  • Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. (lu.se)
  • [ 1 ] The underlying cause of multiple CMN and so-called NCM was recently found to be mosaicism for heterozygous activating mutations in codon 61 of NRAS, a developmental gene and oncogene involved in the control of key cell signalling pathways. (medscape.com)
  • We evaluated 128 participants with de novo, pathogenic SCN1A variants to investigate whether mosaicism, caused by postzygotic mutation, is a major modifier in SCN1A-related epilepsy. (uu.nl)
  • The concept of cutaneous mosaicism is important for gene mapping because here we have the opportunity to study two populations of cells differing only with regard to the mutation causing mosaicism. (nih.gov)
  • Results We identified a homozygous 2 bp deletion in MMP21, encoding matrix metalloproteinase-21, as the sole coding mutation that segregated with the phenotype. (bmj.com)
  • Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. (xia-gibbs.org)
  • [ 6 ] In one Bosnian family, five patients had the same recurrent mutation Y279C in the PTPN11 gene, but had different phenotypes and a variable expression of multiple lentigines. (medscape.com)
  • The authors considered various pathogenetic mechanisms: revertant mosaicism, silencing of a second PTPN11 mutation, genes located on a sex chromosome influencing the phenotype, and epigenetic influences. (medscape.com)
  • Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. (lu.se)
  • Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. (lu.se)
  • In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
  • Turner syndrome is a genetic condition that results from deletion of the second sex chromosome (45, X). However some individuals exhibit a mixture of cells, which is known as mosaicism. (bvsalud.org)
  • Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X). (upd-tl.com)
  • Another small supernumerary marker chromosome (sSMC) derived from chromosome 2 - towards a genotype/ phenotype correlation. (upd-tl.com)
  • A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX. (upd-tl.com)
  • The maternal uniparental disomy of chromosome 6 (upd(6)mat) 'phenotype': result of placental trisomy 6 mosaicism? (cdc.gov)
  • He has history of ring Y chromosome mosaicism diagnosed by amniocentesis performed due to advanced maternal age. (juniperpublishers.com)
  • This mosaicism, due to the presence of the ring Y chromosome and depending upon on the presence or absence of the SRY gene can result in a wide spectrum of manifestations ranging from females with a Turner syndrome-like phenotype to phenotypic males. (juniperpublishers.com)
  • Variability of phenotype depends on the percentage of monosomic cells in different tissues and on the genetic material deleted during the formation of ring Y chromosome. (juniperpublishers.com)
  • Detailed mapping suggests that haploinsufficiency of one or more genes in Xp22.3, the distal 8.3 megabases (Mb) of the X chromosome, is responsible for a TS neurocognitive phenotype. (biomedcentral.com)
  • Mosaicism, partial trisomy, translocations and other related chromosomal disorders are variable phenotypes of a full trisomy. (trisomy.org)
  • Two cases of trisomy 12 were reported in a large study of chromosomal mosaicism detected on CVS. (bcchr.ca)
  • 1997) summarized findings in 23 cases of trisomy 12 mosaicism detected in amniotic fluid--20 of which were female and only three were male. (bcchr.ca)
  • A bias towards females has been noted in other cases of trisomy mosaicism (e.g. trisomy 16) and suggests either preferential survival of female mosaics or a greater tendency to mosaicism in females. (bcchr.ca)
  • For example skin was positive for the trisomy in 3 of 7 cases examined all with apparently normal phenotype. (bcchr.ca)
  • 2000) reported a case of trisomy 12 diagnosed in a newborn and summarized results for 4 other cases of trisomy 12 mosaicism diagnosed postnatally. (bcchr.ca)
  • 1995) Mosaicism for trisomy 12: four cases with varying outcomes. (bcchr.ca)
  • Brosens JJ, Overton C, Lavery SA, Thornton S. (1996) Trisomy 12 mosaicism diagnosed by amniocentesis. (bcchr.ca)
  • 2000) Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child. (bcchr.ca)
  • English CJ, Goodship JA, Jackson A, Lowry M, Wolstenholme J. (1994) Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development. (bcchr.ca)
  • 1997) European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. (bcchr.ca)
  • A number of different chromosomal anomalies, including trisomy [ 7 ] mosaicism and diploidtriploid mosaicism, have been identified, and the causes of IH are likely to be heterogeneous [ 5 ]. (longdom.org)
  • Some cutaneous mosaic phenotypes virtually always occur sporadically, but exceptionally may show a familial aggregation. (nih.gov)
  • This child's mother was mosaic for the same deletion (present in approximately 38% of cells) and exhibited a milder phenotype including macrodontia, short stature and brachydactyly. (omeka.net)
  • This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome. (omeka.net)
  • In this review, I provide an overview of the most frequently seen mosaic neurocutaneous phenotypes and discuss their molecular basis. (qxmd.com)
  • Patients with mosaic 45, X/46,X(r)Y karyotype, present with phenotypes ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, to almost phenotypic normal males [ 4 , 5 ]. (juniperpublishers.com)
  • Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the fetus. (wikipedia.org)
  • It has been suggested that IH could be one end of the spectrum of phenotypes of BWS [ 8 ], linked to the chromosomal locus 11p15 [ 9 ]. (longdom.org)
  • Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. (springer.com)
  • Variants were frequently familial, and genotype-phenotype analyses demonstrated striking interfamilial and intrafamilial variability. (springer.com)
  • There is a need to further characterize the natural history of ZSD, the Gly470Ala variant, and expand upon possible genotype-phenotype correlations. (stanford.edu)
  • Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. (upd-tl.com)
  • This inference was based on genotype/phenotype comparisons of individual girls and women with partial Xp deletions, with the neurocognitive phenotype considered a dichotomous trait. (biomedcentral.com)
  • One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. (figshare.com)
  • Nevertheless, it is believed that genetic heterogeneity is one of the points responsible for variations in the individuals' cognitive phenotype. (bvsalud.org)
  • This was accompanied by analysis of electro-clinical phenotypes of the affected individuals. (aau.dk)
  • The stark differences between the gain-of-function and loss-of function effects were mirrored by the clinical phenotypes. (aau.dk)
  • Level of mosaicism: There is a correlation between a high number of aneuploid cells detected at CVS with poor pregnancy progress. (wikipedia.org)
  • Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. (figshare.com)
  • There are three types of confined placental mosaicism depending on the cells involved at the time of the error: Type 1 CPM- The error occurs in a trophoblast cell, and thus only trophoblast cells are affected. (wikipedia.org)
  • Most pregnancies that are diagnosed with confined placental mosaicism continue to term with no complications and the children develop normally. (wikipedia.org)
  • The pregnancy loss rate in pregnancies with confined placental mosaicism, diagnosed by chorionic villus sampling, is higher than among pregnancies without placental mosaicism. (wikipedia.org)
  • In MMTV:PyMT mouse model, homozygous but not heterozygous deletion of Pfn1 gene leads to severe genetic mosaicism and positive selection of Pfn1-proficient tumor cells further supporting the contention that a complete lack of Pfn1 is likely not conducive for efficient tumor initiation capability of breast cancer cells. (elsevierpure.com)
  • The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. (figshare.com)
  • Neurocutaneous Manifestations of Genetic Mosaicism. (qxmd.com)
  • Ever more disorders are found to be manifestations of mosaicism and together constitute a significant proportion of the morbidity confronting pediatric specialists. (qxmd.com)
  • Although neurological abnormalities are well established as the most common extracutaneous manifestations of mosaicism in children with multiple CMN, with an incidence ranging from 10% to 33% in clinical studies, [ 3-5 ] the blanket term 'NCM' has been applied to all abnormalities, with no systematic subclassification. (medscape.com)
  • Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype. (nih.gov)
  • Six patients with gain-of-function variants shared common phenotypes: neurodevelopmental disorders with generalized epilepsy, behavioral issues, and various degrees of intellectual disability. (aau.dk)
  • Objective: Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. (uu.nl)
  • Participants with mosaicism have on average milder phenotypes, suggesting that mosaicism can be a major modifier of SCN1A-related diseases. (uu.nl)
  • MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype. (stanford.edu)
  • In the remaining two subjects the clinical phenotype was still considered to be Angelman-like. (bmj.com)
  • Methods: Mosaicism was investigated by reanalysis of the pathogenic SCN1A variants using single molecule molecular inversion probes and next generation sequencing with high coverage. (uu.nl)
  • Allelic ratios of pathogenic variants were used to determine whether mosaicism was likely. (uu.nl)
  • Results: Mosaicism was present for 7.5% of de novo pathogenic SCN1A variants in symptomatic patients. (uu.nl)
  • Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. (springer.com)
  • In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. (springer.com)
  • 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. (figshare.com)
  • Nevertheless, the heterogeneous clinical phenotype may present a challenge, particularly for patients with only ocular phenotypes. (molvis.org)
  • The goal for the Registry is to collect genetic and other clinical information from XGS families worldwide so we can have a better understanding of the phenotypes of XGS patients. (xia-gibbs.org)
  • We report statistical evidence that deletion of Xp22.3, an interval containing 31 annotated genes, is sufficient to cause the neurocognitive phenotype described by the TSCS score. (biomedcentral.com)
  • According to the locus heterogeneity and differences in the vitreous phenotype, Stickler syndrome is primarily classified into six subtypes. (molvis.org)
  • Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. (lu.se)
  • In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
  • We previously reported evidence that this phenotype results from haploinsufficiency of one or more genes on distal Xp. (biomedcentral.com)
  • Heteroplasmy and mosaicism are therefore important determinants of mitochondrial disease pathophysiology. (biorxiv.org)
  • Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
  • The goal is to identify whether there are instances of AHDC1 mosaicism that can influence disease and or recurrence. (xia-gibbs.org)
  • We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. (springer.com)
  • In addition, copy number variation in the 16q24.3 region that includes ANKRD11 results in a variable phenotype that overlaps with KBG syndrome and also includes autism spectrum disorders and other dysmorphic facial features. (omeka.net)
  • Alternatively, due to the high rate and relaxed replication of mtDNA, mosaicism can arise through clonal expansion and subsequent genetic drift between adjacent cells and tissues over time [ 6 ]. (biorxiv.org)
  • Although there is evidence of selectivity [ 7 ], it is generally assumed that mitotic segregation and genetic drift are largely stochastic processes and therefore lead to random variation in mtDNA heteroplasmy and mosaicism within individuals [ 4 ]. (biorxiv.org)
  • However, because attenuated strains of OPV replicate in the gut and are excreted in feces, low vaccine coverage enables circulation of these strains and loss of their attenuated phenotype through genetic drift ( 3 , 4 ). (cdc.gov)
  • In this review, the various genetic mechanisms leading to mosaicism and the resulting cutaneous patterns are considered. (nih.gov)
  • The skin is especially suitable for the study of mosaicism. (nih.gov)
  • In this study, we demonstrate that Pfn1 overexpression reduces the stem-like phenotype (a key biologic feature associated with higher tumor-initiating potential) of MDA-MB-231 (MDA-231) triple-negative breast cancer cells. (elsevierpure.com)
  • In this study, 12 Chinese probands lacked obvious systemic phenotypes. (molvis.org)