Cases reported "Genetic Diseases, Inborn"

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1/7. Human genetic disease caused by de novo mitochondrial-nuclear dna transfer.

    Transfer of nucleic acid from cytoplasmic organelles to the nuclear genome is a well-established mechanism of evolutionary change in eukaryotes. Such transfers have occurred throughout evolution, but so far, none has been shown unequivocally to occur de novo to cause a heritable human disease. We have characterized a patient with a de novo nucleic acid transfer from the mitochondrial to the nuclear genome, a transfer that is responsible for a sporadic case of pallister-hall syndrome, a condition usually inherited in an autosomal dominant fashion. This mutation, a 72-bp insertion into exon 14 of the GLI3 gene, creates a premature stop codon and predicts a truncated protein product. Both the mechanism and the cause of the mitochondrial-nuclear transfer are unknown. Although the conception of this patient was temporally and geographically associated with high-level radioactive contamination following the Chernobyl accident, this case cannot, on its own, be used to establish a causal relationship between radiation exposure and this rare type of mutation. Thus, for the time being, it must be considered as an intriguing coincidence. Nevertheless, these data serve to demonstrate that de novo mitochondrial-nuclear transfer of nucleic acid is a novel mechanism of human inherited disease.
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2/7. cystic fibrosis--a genetic dilemma.

    cystic fibrosis is a common genetic disease that usually presents in early childhood as a devastating disease affecting pulmonary function and at times gastrointestinal functioning and nutritional status. Variant forms of this disease have been described, which may have a delayed age of onset or a milder clinical course. Numerous genetic mutations have been described in cystic fibrosis. There are several mutations that are known to be associated with late onset disease or mild clinical disease. research continues into these genetic mutations and various modifiers that may help to more accurately predict the final phenotypic presentation.
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keywords = genetic disease
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3/7. Prospects for human gene therapy.

    Retroviral vectors containing marker genes and the sequence for human proteins have been used to transduce cultured lymphocytes, which have then been reinfused into patients. Circulating hematopoietic progenitor cells from human fetal cord blood obtained at the time of term and premature deliveries as early as 19 weeks of gestation have been shown to express such transduced genes in vitro. Cord blood cells from fetal sheep sampled and transduced ex vivo and transfused back in utero expressed marker genes up to two years after birth. Although the efficiency of gene transfer into cells and their long-term expression need to be improved, the potential exists for treating some genetic diseases after prenatal diagnosis either in utero or shortly after birth.
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4/7. Use of oocytes from anonymous, matched, fertile donors for prevention of heritable genetic diseases.

    Heritable genetic diseases can be prevented with the use of donor oocytes. We report our experience in using donor oocytes from anonymous, matched, fertile donors in four women with heritable genetic disorders. Our results show that use of donor oocytes is a practical, successful, and currently available technique for the prevention of genetic disorders.
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keywords = genetic disease
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5/7. A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

    Roberts syndrome (RS) is a rare disorder characterized by tetraphocomelia and several other clinical features. Cells from RS patients exhibit characteristic premature separation of heterochromatic region of many chromosomes and abnormalities in cell cycle. Mutations in the ESCO2 gene have recently been identified in 20 RS families. We performed mutational analysis of the ESCO2 gene in two fetuses diagnosed with RS and their normal parents. In both fetuses, we identified homozygosity for the c. 745_746delGT mutation, while the non-consanguineous parents were both heterozygous for the same mutation. Considering the position of the mutation identified, we carried out qualitative and quantitative real-time ESCO2 cDNA analysis on rna isolated from CVS-stromal cells in one fetus, amniocytes in the second fetus, and lymphocytes from the heterozygous parents. The results of this analysis showed that despite the presence of a premature termination codon (PTC) 112 nucleotides upstream of the next exon3-exon4 junction, the mutant ESCO2 mRNA was present in both fetuses, albeit at low levels, indicating a partial resistance to nonsense mediated decay (NMD). Interestingly, when cells derived from the two fetuses were treated with an inhibitor of translation, they revealed the presence of tissue and individual variability in NMD efficiency, despite the identical mutational status. The existence of such a variation in the NMD efficiency could explain the broad intrafamilial and interfamilial variability in the clinical presentation of RS patients, and in other genetic diseases where nonsense mutations are responsible for most of the mutation load. Moreover, considering that a mutated full length mRNA was produced in both fetuses, we used Western blot analysis to demonstrate the absence of the ESCO2-truncated protein in cells derived from both fetuses and in a lymphoblastoid cell line derived from the parents.
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keywords = genetic disease
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6/7. A perimortem protocol for suspected genetic disease.

    A considerable portion of pediatric deaths represent disease with risk of recurrence in subsequent family members. Procedures to obtain samples of body fluids and tissues suitable for diagnosis of mendelian and chromosomal disorders are described. These procedures, the "perimortem protocol," are used in studying children who died of suspected but undiagnosed genetic disease.
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keywords = genetic disease
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7/7. Significance of meconium in midtrimester diagnostic amniocentesis.

    The importance of meconium passage as a sign of the third-trimester fetus in distress is well known. The significance of similar observations in the midtrimester fetus is much less certain. The increasing use of amniocentesis during the middle trimester for the diagnosis of genetic disease makes ascertainment of such data important. Ten instances of meconium-stained amniotic fluid in the last 514 amniocenteses performed at our institution for antenatal genetic diagnosis are reported. Seven pregnancies have ended at term with normal deliveries. Three pregnancies have terminated with fetal death. meconium staining may be a sign of impending fetal death when passed during the second trimester. When accompanied by alpha-fetoprotein elevation two of three pregnancies terminated with fetal death.
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