Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two hundred and fifty three infants were screened for cytomegalovirus (CMV) in the urine at birth and were followed up at regular intervals for one year. Twelve per cent (of 249) were excreting virus at 3 months, and 20% (of 234) at 12 months. In all cases infection was subclinical. The major factors determining risk of acquiring infection were the mother's serological state and whether the infant was breast fed. There was no association with social class, mother's age, or whether the child had been in a special care baby unit or a postnatal ward. By one year 33% (of 123) of infants of seropositive mothers had acquired CMV infection compared with 4% (of 123) born to seronegative mothers. Twenty per cent (17) of seropositive women who breast fed had virus isolated from their breast milk on at least one occasion, and 76% (13) of their infants became infected. In four mother-infant pairs comparison of CMV isolates from the mother's milk and the child's urine was made by restriction endonuclease digestion; in each pair infection had apparently occurred with the same strain of virus. All 13 infected infants followed up for three years were still shedding virus. Infection with CMV is common in infancy, and virus shedding persists for years. Congenital infection cannot be distinguished from acquired infection unless the presence of CMV in the urine is identified within three or four weeks after birth, even when clinical problems suggestive of congenital infection are present.
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PMID:Early acquisition of cytomegalovirus infection. 282 27

Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P=.001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified.
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PMID:Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 1784 97