scholarly journals Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping

2021 ◽  
Vol 12 ◽  
Author(s):  
Pengzhen Jin ◽  
Kai Yan ◽  
Shaofen Ye ◽  
Yeqing Qian ◽  
Zaigui Wu ◽  
...  

Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal splicing have increased recently, however, not much observations available described the synonymous mutations at the non-canonical splicing sites leading to abnormal splicing. In this pedigree, the proband was diagnosed Neurofibromatosis type I due to the presence of typical cafe’ au lait macules and pectus carinatum. Whole-exome sequencing identified a synonymous mutation c.6795C > T (p.N2265N) of the NF1 gene which was located at the non-canonical splicing sites. Reverse transcription polymerase chain reaction followed by Sanger sequencing was carried out, and the skipping of exon 45 was observed. Therefore, the pathogenicity of the synonymous mutation c.6795C > T was confirmed. Our finding expanded the spectrum of pathogenic mutations in Neurofibromatosis type I and provided information for genetic counseling.

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
J Neinert ◽  
E Fastnacht ◽  
R Larisch ◽  
E Legius ◽  
R Engelskirchen ◽  
...  

2011 ◽  
Vol 23 (Suppl 2) ◽  
pp. S185 ◽  
Author(s):  
Seongmin Noh ◽  
Ji Eun Kwon ◽  
Kwang Gil Lee ◽  
Mi Ryung Roh

2012 ◽  
Vol 15 (2) ◽  
pp. 337-344 ◽  
Author(s):  
D. Roussan ◽  
I. Shaheen ◽  
G. Khawaldeh ◽  
W. Totanji ◽  
R. Al-Rifai

Simultaneous detection of astrovirus, rotavirus, reovirus and adenovirus type I in broiler chicken flocksEnteric diseases cause substantial economic losses to the poultry industry. Astroviruses, rotaviruses, reoviruses, and adenovirus type 1 have been reported as a significant cause of intestinal symptoms in poultry. In the present study, intestinal samples from 70 commercial broiler chicken flocks were examined for the presence of astroviruses, rotavirus, and reovirus by reverse transcription-polymerase chain reaction, and for the presence of group I adenovirus by polymerase chain reaction. Astroviruses were identified in 38.6% of samples tested. Both avian nephritis virus and chicken astrovirus were identified in the astrovirus positive flocks, where 74.1% of these flocks were positive for only one type of astrovirus, whereas, 25.9% of these flocks were positive for both types of astrovirus. Reoviruses, rotaviruses, and adenoviruses were identified in 21.4, 18.6, and 14.3% of these flocks, respectively. Concomitant infection with two or more viruses in the same flock were also prominent, where 5.7, 5.7, 2.9, 2.9, 1.4, and 1.4% of these flocks were positive with both astrovirus and rotavirus; astrovirus and adenovirus; astrovirus and reovirus; rotavirus and adenovirus; rotavirus and reovirus; and reovirus and adenovirus respectively. Moreover, 4.3 and 2.7% of these flocks were positive for astrovirus, reovirus, and adenovirus; and astrovirus, reovirus, and rotavirus, respectively. Further studies will focus on identifying specific viral factors or subtypes/subgroups associated with disease through pathogenesis studies, economic losses caused by infections and co-infections of these pathogens, and the costs and benefits of countermeasures.


1996 ◽  
Vol 8 (1) ◽  
pp. 51-56 ◽  
Author(s):  
Rina Wu ◽  
Eric Legius ◽  
Wim Robberecht ◽  
Monique Dumoulin ◽  
Jean-Jacques Cassiman ◽  
...  

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