OTC deficiency in females: phenotype‐genotype correlation based on a 130‐family cohort

2021 ◽  
Author(s):  
Stephanie Gobin‐Limballe ◽  
Chris Ottolenghi ◽  
Fabien Reyal ◽  
Jean‐Baptiste Arnoux ◽  
Maryse Magen ◽  
...  
Keyword(s):  
Otc Deficiency ◽  
Genotype Correlation

scholarly journals Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

2021 ◽  
Vol 10 (8) ◽  
pp. 1552
Author(s):  
Guilaine Boursier ◽  
Cécile Rittore ◽  
Florian Milhavet ◽  
Laurence Cuisset ◽  
Isabelle Touitou
Keyword(s):  
Severe Disease ◽  
Compound Heterozygous ◽  
Mevalonate Kinase ◽  
Kinase Gene ◽  
New Associations ◽  
Associated Diseases ◽  
Ocular Symptoms ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Increased Risk ◽  
Genotype Correlation

Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene (MVK) and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a recessive systemic metabolic disease called mevalonic aciduria, and the most recently recognized is disseminated superficial actinic porokeratosis, a dominant disease limited to the skin. To evaluate a possible correlation between genotypes and (1) the different MKAD clinical subtypes or (2) the occurrence of severe manifestations, data were reviewed for all patients with MVK variants described in the literature (N = 346), as well as those referred to our center (N = 51). The genotypes including p.(Val377Ile) (homozygous or compound heterozygous) were more frequent in mild systemic forms but were also sometimes encountered with severe disease. We confirmed that amyloidosis was more prevalent in patients compound heterozygous for p.(Ile268Thr) and p.(Val377Ile) than in others and revealed new associations. Patients homozygous for p.(Leu264Phe), p.(Ala334Thr) or compound heterozygous for p.(His20Pro) and p.(Ala334Thr) had increased risk of severe neurological or ocular symptoms. All patients homozygous for p.(Leu264Phe) had a cataract. The variants associated with porokeratosis were relatively specific and more frequently caused a frameshift than in patients with other clinical forms (26% vs. 6%). We provide practical recommendations focusing on phenotype–genotype correlation in MKAD that could be helpful for prophylactic management.

DIFFERENCES IN GENOTYPE OF E. FAECALIS AND E. FAECIUM CLINICAL ISOLATES REGARDING CYTOLYSIN AND GELATINASE PRODUCTION IN BULGARIAN PATIENTS

2020 ◽  
Vol 18 (Suppl.1) ◽  
pp. 130-137
Author(s):  
R. Yordanova ◽  
S. Stanilova
Keyword(s):  
Virulence Genes ◽  
Clinical Isolates ◽  
University Hospitals ◽  
Gelatinase Activity ◽  
Non Invasive ◽  
Genotypic Analysis ◽  
Enterococcus Spp ◽  
Virulent Gene ◽  
One Year ◽  
Genotype Correlation

Purpose - compare the phenotype and genotype correlation of cytolysin and gelatinase production in clinical isolates Enterococcus spp. Materials and methods - 100 Enterococcus strains collected over a period of one year from inpatients of two Bulgarian university hospitals, were tested for phenotype production of cytolysin and gelatinase. Multiplex PCR was performed to screen the presence of gelE and cylA virulence genes. Results – 17% of the enterococcal isolates demonstrated only cytolysin production phenotypically. Gelatinase activity was found in 21% of the isolates. Only E. faecalis showed combined phenotypic production of cytolysin plus gelatinase (21%). Forty-five percent of the tested enterococci were identified negative for both hemolysin and gelatinase activity. GelE was the most prevalent virulent gene (48% of the isolates). CylA gene was present alone only in four non-invasive E. faecalis isolates. Twenty-six percent of the isolates possessed both cylA and gelE genes and 21% did not harbor any of the virulence factors genotypically. Conclusion - our results prove that it is appropriate to perform both phenotypic and genotypic analysis of the enterococci virulence profile in parallel in order to better characterize the strains, which in turn may serve to develop more effective methods to limit the spread of infections caused by these microorganisms.

scholarly journals Hepatocellular Adenoma in a Patient with Ornithine Transcarbamylase Deficiency

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Lin Cheng ◽  
Yajuan Liu ◽  
Wenjing Wang ◽  
J. L. Merritt ◽  
Matthew Yeh
Keyword(s):  
Liver Damage ◽  
English Language ◽  
Scientific Literature ◽  
Hepatocellular Adenoma ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency ◽  
Otc Deficiency

Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that leads to hyperammonemia and liver damage. Hepatocellular adenoma in OTC deficiency patients has not been previously described. Here we report the first such case to be described in the English language scientific literature.

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

Neurology ◽  
2006 ◽  
Vol 66 (5) ◽  
pp. 759-761 ◽  
Author(s):  
M.C.F. Gerrits ◽  
E. M.J. Foncke ◽  
R. de Haan ◽  
K. Hedrich ◽  
Y. L.C. van de Leemput ◽  
...  
Keyword(s):  
Myoclonus Dystonia ◽  
Genotype Correlation
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