scholarly journals A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1618
Author(s):  
Olga Shatokhina ◽  
Natalia Semenova ◽  
Nina Demina ◽  
Elena Dadali ◽  
Alexander Polyakov ◽  
...  

Here, we report a novel truncating mutation in the ubiquitin-specific peptidase gene (USP53) causing low-γ-GT (GGT) cholestasis. Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. The proband harbored a novel c.1017_1057del (p.(Cys339TrpfsTer7)) mutation in the ubiquitin carboxyl-terminal hydrolase (UCH) domain of USP53; we describe the clinical and laboratory features of the patient with a rare type of low-GGT cholestasis caused by this variant. The clinical presentation was found to be similar to that of phenotypes described in previous studies. However, there was an unusual presence of liver hemangiomas observed in our patient. Thus, our report reinforces the link between USP53 mutations and cholestasis. With this report, we confirm USP53 as the gene for low-GGT cholestasis and describe liver hemangiomas as a possible additional symptom of the phenotype spectrum. The inclusion of USP53 in the OMIM database and liver gene panels can further increase the effectiveness of molecular genetic studies.

Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 518
Author(s):  
Giovanna Tritto ◽  
Ivana Ricca ◽  
Marco Turi ◽  
Andrea Gemma ◽  
Filippo Muratori ◽  
...  

Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of the involvement of genetic factors in etiology. Molecular genetic studies report some associations with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here, we report a clinical case of autism in a 6-year-old boy with double duplication on 10q11.22q11.23 with ASD (Autism Spectrum Disorder), intellectual disability, developmental delay, hypotonia, gross-motor skills deficit, overgrowth and mild dysmorphic features. In the literature, only five cases of ASD with 10q11.21q11.23 duplication are reported. This is the first extensive clinical description of an ASD subject with 10q11.22q11.23 duplication. Our findings suggest that 10q11.21q11.23 microduplication could represent a copy number variant that predisposes to autism.


Molecules ◽  
2021 ◽  
Vol 26 (9) ◽  
pp. 2431
Author(s):  
Natalia A. Shnayder ◽  
Marina M. Petrova ◽  
Tatiana E. Popova ◽  
Tatiana K. Davidova ◽  
Olga P. Bobrova ◽  
...  

Chronic pain syndromes are an important medical problem generated by various molecular, genetic, and pathophysiologic mechanisms. Back pain, neuropathic pain, and posttraumatic pain are the most important pathological processes associated with chronic pain in adults. Standard approaches to the treatment of them do not solve the problem of pain chronicity. This is the reason for the search for new personalized strategies for the prevention and treatment of chronic pain. The nitric oxide (NO) system can play one of the key roles in the development of peripheral pain and its chronicity. The purpose of the study is to review publications devoted to changes in the NO system in patients with peripheral chronical pain syndromes. We have carried out a search for the articles published in e-Library, PubMed, Oxford Press, Clinical Case, Springer, Elsevier, and Google Scholar databases. The search was carried out using keywords and their combinations. The role of NO and NO synthases (NOS) isoforms in peripheral pain development and chronicity was demonstrated primarily from animal models to humans. The most studied is the neuronal NOS (nNOS). The role of inducible NOS (iNOS) and endothelial NOS (eNOS) is still under investigation. Associative genetic studies have shown that single nucleotide variants (SNVs) of NOS1, NOS2, and NOS3 genes encoding nNOS, iNOS, and eNOS may be associated with acute and chronic peripheral pain. Prospects for the use of NOS inhibitors to modulate the effect of drugs used to treat peripheral pain syndrome are discussed. Associative genetic studies of SNVs NOS1, NOS2, and NOS3 genes are important for understanding genetic predictors of peripheral pain chronicity and development of new personalized pharmacotherapy strategies.


1996 ◽  
Vol 17 (4) ◽  
pp. S25-S26
Author(s):  
H. Furukawa ◽  
H. Tashiro ◽  
Y. Tanaka ◽  
C. Yutani ◽  
T. Yamaguchi ◽  
...  

1998 ◽  
Vol 8 (4) ◽  
pp. 415-422 ◽  
Author(s):  
Brenda Winkel Shirley

AbstractFlavonoids are secondary metabolites that are present at high levels in most plant seeds and grains. These compounds appear to play vital roles in defence against pathogens and predators and contribute to physiological functions such as seed maturation and dormancy. At the same time, particular subclasses of flavonoids, such as the proanthocyanidins (condensed tannins), negatively impact the use of seeds and grains in animal feed and can add undesirable qualities to food products for human consumption. This article presents an overview of investigations into the physiological and agronomic aspects of seed and grain flavonoids as well as a review of molecular genetic studies, particularly in maize,Arabidopsisand soybean, where mutants deficient in flavonoid biosynthesis provide useful tools for stydying the metabolic machinery underlying the accumulation of these compounds in reproductive structures.


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