PW01-004 – The sequence analysis in E148Q homozygous patients

Topaloğlu, R; Yıldız, Çiğdem; Taşkıran, Ekim Z.; Korkmaz, Emine; Beşbaş, Nesrin; Özen, Seza; Düzova, Ali; Akarsu, Nurten; Özaltın, Fatih

doi:10.1186/1546-0096-11-s1-a57

Cited by 4 publications

(6 citation statements)

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“…However, due to the absence of functional tests, the consequences of these variants on MEFV gene function and structure remain unknown. The role of E148Q variant is uncertain, whether it is mildly pathogenic with reduced penetrance or a variant without the causative role [ 9 , 29 ]. K695R and P369S variants have also been reported as having reduced penetrance [ 30 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

Perko

Debeljak

Toplak

et al. 2015

Mediators of Inflammation

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PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children's Hospital, Ljubljana, were collected from 2008 to 2014. All four genes were PCR amplified and directly sequenced. Eighty-one patients fulfilled criteria for PFAPA syndrome, 50 (63%) boys and 31 (37%) girls, with mean age at disease onset of 2.1 ± 1.5 years. Adenitis, pharyngitis, and aphthae were present in 94%, 98%, and 56%, respectively. Family history of recurrent fevers in childhood was positive in 78%. Nineteen variants were found in 17/62 (27%) patients, 4 different variants in NLRP3 gene in 13 patients, and 6 different variants in MEFV gene in 5 patients, and 2 patients had 2 different variants. No variants of clinical significance were found in MVK and AIM2 genes. Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture.

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Section: Discussionmentioning

confidence: 99%

Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

Perko

Debeljak

Toplak

et al. 2015

Mediators of Inflammation

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“…Differences in MEFV mutation gene pools between southeastern and other regions of Turkey may be due to southeastern Turkey's unique ethnic composition, and likely explains why there is a relatively high frequency of the E148Q mutation in this region. Our study and some previous reports suggest that E148Q mutation is related to FMF, 19,30 since the frequency of E148Q is 6.5% in healthy Turkish population. 30 In conclusion, the E148Q mutation is the most frequent MEFV mutation in southeastern Turkey and is associated with milder disease phenotypes and later disease onset.…”

Section: Discussionmentioning

confidence: 73%

“…Our study and some previous reports suggest that E148Q mutation is related to FMF, 19,30 since the frequency of E148Q is 6.5% in healthy Turkish population. 30 In conclusion, the E148Q mutation is the most frequent MEFV mutation in southeastern Turkey and is associated with milder disease phenotypes and later disease onset. This is in contrast to other regions of Turkey and the most areas of the world.…”

Section: Discussionmentioning

confidence: 73%

High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

Turquía¹,

Şahina²

2015

Arch Argent Pediat

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Objective:The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotypephenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. Methods: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity. Results: A family history of FMF was found in 60.2% (n= 305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n= 380) were heterozygous, 14.2% were homozygous (n= 72) and 10.8% were compound heterozygous (n= 55).The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05). Conclusion:The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.

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“…Las diferencias en los acervos genéticos de la mutación MEFV entre la región sureste y otras regiones de Turquía pueden deberse a la composición étnica singular del sureste de Turquía, y probablemente explique porqué en esta región hay una frecuencia relativamente alta de la mutación E148Q. Nuestro estudio y algunos informes previos sugieren que la mutación E148Q está relacionada con la FMF, 19,30 dado que la frecuencia de E148Q es del 6,5% en la población turca sana. 30 En conclusión, en el sureste de Turquía, la mutación E148Q en el gen MEFV es la más frecuente y se asocia con fenotipos de enfermedad más leves y un inicio más tardío de la enfermedad.…”

Section: Genotipos De Los Pacientesunclassified

“…Nuestro estudio y algunos informes previos sugieren que la mutación E148Q está relacionada con la FMF, 19,30 dado que la frecuencia de E148Q es del 6,5% en la población turca sana. 30 En conclusión, en el sureste de Turquía, la mutación E148Q en el gen MEFV es la más frecuente y se asocia con fenotipos de enfermedad más leves y un inicio más tardío de la enfermedad. Esto es opuesto a lo que ocurre en otras regiones de Turquía y en la mayoría de las áreas del mundo.…”

Section: Genotipos De Los Pacientesunclassified

Alta frecuencia de variación de la secuencia de la mutación E148Q en niños con fiebre mediterránea familiar en el sureste de Turquía

Uluca¹,

Ece²,

Şen³

et al. 2015

Arch Argent Pediat

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PW01-004 – The sequence analysis in E148Q homozygous patients

Cited by 4 publications

References 0 publications

Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

Alta frecuencia de variación de la secuencia de la mutación E148Q en niños con fiebre mediterránea familiar en el sureste de Turquía

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