Clinical significance of MEFV gene variation R202Q

2021 ◽  
Author(s):  
Yaşar Kandur ◽  
Derya Beyza Sayın Kocakap ◽  
Aysegul Alpcan ◽  
Serkan Tursun
Keyword(s):  
Clinical Significance ◽  
Mefv Gene ◽  
Gene Variation

Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever

Rheumatology ◽  
2021 ◽  
Author(s):  
Irit Tirosh ◽  
Yonatan Yacobi ◽  
Asaf Vivante ◽  
Ortal Barel ◽  
Yishay Ben-Moshe ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Clinical Significance ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Leg Pain ◽  
Compound Heterozygous ◽  
Phenotype Correlation ◽  
Heterozygous Variant ◽  
Mediterranean Fever

Abstract Objectives Familial Mediterranean Fever (FMF) results from mutations in the Mediterranean fever (MEFV) gene. The p.E148Q is one of the most frequent protein alternations in the MEFV gene, yet the exact E148Q genotype–phenotype correlation remains unclear. The aim of this study was to examine clinical significance of heterozygous E148Q variant in a paediatric FMF cohort. Methods We compared the clinical manifestations and disease severity score of four genetic sub-groups: (1) patients harboring a single heterozygous p.E148Q variant (n = 6); (2) patients harboring a single p.M694V heterozygous variant (n = 88); (3) patients harboring compound heterozygous p.M694V and p.E148Q variants (n = 36) and (4) homozygotes for p.M694V variant (n = 160). Results Of 646 FMF children from our centre, only 1% (6 patients) of our genetically characterized FMF cohort had a single E148Q variant, most presenting with recurrent fevers and abdominal pain. None of the participants were found to harbor homozygous E148Q. Overall, M694V/E148Q compound heterozygosity did not exhibit a more severe phenotype compared to patients with a single M694V variant. The former group were less likely to have abdominal pain and exertional leg pain (p < 0.004 and p < 0.001 respectively) and more likely to have chest pain (P < 0.01). Both sub-groups showed milder clinical phenotype compared to patients with M694V homozygosity. Conclusion Our findings demonstrate that a single heterozygous E148Q variant is unlikely to cause FMF in children and that E148Q/M694V is clinically indistinguishable from a single M694V variant. Thus, E148Q heterozygosity does not result in clinically meaningful phenotype in children.

Clinical significance of IL28B gene variation in hepatitis C virus infection

2010 ◽  
Author(s):  
Golo Ahlenstiel ◽  
David R. Booth ◽  
Jacob George
Keyword(s):  
Hepatitis C Virus ◽  
Hepatitis C ◽  
Virus Infection ◽  
Clinical Significance ◽  
Hepatitis C Virus Infection ◽  
Gene Variation

The clinical significance of partial lipoatrophy and C3 hypocomplementaemia: a report of two cases

1996 ◽  
Vol 21 (2) ◽  
pp. 131-134 ◽  
Author(s):  
J. WAYTE ◽  
G. BIRD ◽  
J.D. WILKINSON
Keyword(s):  
Clinical Significance

Clinical significance of cathepsin E in pancreatic juice in the diagnosis of pancreatic ductal adenocarcinoma

2000 ◽  
Vol 15 (11) ◽  
pp. 1333-1338 ◽  
Author(s):  
Koji Uno ◽  
Takeshi Azuma ◽  
Masatsugu Nakajima ◽  
Kenjiro Yasuda ◽  
Takanobu Hayakumo ◽  
...  
Keyword(s):  
Pancreatic Ductal Adenocarcinoma ◽  
Clinical Significance ◽  
Pancreatic Juice ◽  
Ductal Adenocarcinoma ◽  
Cathepsin E

Diversity of Helicobacter pylori CagA gene and its clinical significance

2001 ◽  
Vol 120 (5) ◽  
pp. A56-A56
Author(s):  
T AZUMA ◽  
Y ITO ◽  
M DOJO
Keyword(s):  
Helicobacter Pylori ◽  
Clinical Significance ◽  
Caga Gene

Clinical significance of p53, K-ras, and Ki-67 expression in cancer and dysplastic tissues in patients with extrahepatic bile duct cancer

2001 ◽  
Vol 120 (5) ◽  
pp. A575-A575
Author(s):  
D LEE ◽  
J LEE ◽  
J KIM ◽  
S JEONG ◽  
K KWON ◽  
...  
Keyword(s):  
Bile Duct ◽  
Clinical Significance ◽  
Bile Duct Cancer ◽  
Extrahepatic Bile Duct ◽  
Ki 67 ◽  
Extrahepatic Bile Duct Cancer ◽  
Duct Cancer

Gastric Varices: Characteristics and Clinical Significance

1956 ◽  
Vol 31 (5) ◽  
pp. 581-587 ◽  
Author(s):  
Bernard H. Smookler
Keyword(s):  
Clinical Significance ◽  
Gastric Varices
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