Genotype–phenotype correlation in children with familial Mediterranean fever in a Turkish population

Düşünsel, Ruhan; Dursun, İsmail; Gündüz, Zübeyde; Poyrazoğlu, Hakan; Gürgöze, Metin Kaya; Dündar, Munis

doi:10.1111/j.1442-200x.2008.02554.x

Cited by 72 publications

(78 citation statements)

References 16 publications

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“…2,[6][7][8][9][10] In addition, the age of the di se a se on set and the di ag no sis we re fo und to be smaller compared to lar ge stu di es and si mi lar to a study from Tur key. 2,9,11 In our se ri es, abdo mi nal pa in was the most com mon fe a tu re (97.7%), fol lo wed by fe ver (72.4%) and jo int in volve ment (58.6%). The se fin dings we re si mi lar to the re sults of ot her stu di es on Turkish and Jewish so cie ti es.…”

Section: Discussionmentioning

confidence: 67%

The Effect of M694V Mutation on Clinical Presentation and Acute Phase Response in Children with Familial Mediterranean Fever: Single Center Experience in Western Turkey

Anıl¹,

Anıl²,

Ertaner³

et al. 2011

Turkiye Klinikleri J Med Sci

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A AB BS S T TR RA AC CT T O Ob b j je ec c t ti i v ve e: : The aim of this study was to in ves ti ga te the phe noty pe-ge noty pe cor re la tion and the re la ti ons hip bet we en cli ni cal se ve rity sco re and acu te pha se res pon se in chil dren with fa mi li al Me di ter ra ne an fe ver (FMF) in Wes tern Tur key. M Ma a t te e r ri i a al l a an nd d M Me et t h ho od ds s: : The me di cal records of 87 FMF chil dren (me an age: 11.1 ± 3.6 ye ars; ran ge: 3-20 ye ars; me an age at di ag no sis: 8.3 ± 3.5 ye ars; me an fol low up: 31.2 ± 27.7 months; fe ma le: 55.2%) mu ta ti ons on MEFV ge ne we re retros pec ti vely re vi e wed. We used Tel Has ho mer di ag nos tic cri te ri a and se ve rity sco re. Cor re la ti ons bet we en whi te blo od cell (WBC), C-re ac ti ve pro te in (CRP) and eryt hrocy te se di men ta ti on ra te (ESR) du ring at tack-pe ri od as well as cli ni cal se ve rity sco res we re in ves ti ga ted. The pa ti ents we re gro u ped ac cor ding to one or two al le led mu ta ti ons and the pre sen ce of the M694V mu ta ti on. Clini cal pa ra me ters and WBC, CRP and ESR le vels we re com pa red among the gro ups. R Re e s su ul lt ts s: : M694V ho mozy go sity was fo und in 22 pa ti ents (25.3%). Amy lo i do sis was se en in six pa ti ents (6.9%). All of them had M694V ho mozy go te mu ta ti on. The me a su red WBC (r= 0.294; p: 0.006), CRP (r= 0.720; p< 0.001) and ESR (r= 0.716; p< 0.001) va lu es we re cor re la ted with cli ni cal se ve rity sco re. The pre sen ce of two mu ta ted al le les or M694V ho mozy go sity was as so ci a ted with a hig her cli ni cal se ve rity sco re, hig her le vels of WBC, CRP and ESR as well as hig her risk of amy lo i do sis com pa red to the others (p< 0.05). C Co on nc c l lu u s si i o on n: : M694V ho mozy go te ge noty pe shows hig her acu te pha se res pon se du ring at tack-pe ri od and se ve re cli ni cal co ur se in chil dren with FMF in Wes tern re gi on of Tur key. K Ke ey y W Wo or rd ds s: : Fa mi li al Me di ter ra ne an Fe ver; acu te-pha se re ac ti on; ge noty pe; child; Tur key Ö ÖZ ZE ET T A Am ma aç ç: : Bu ça lış ma nın ama cı Tür ki ye' nin ba tı sın da ki ai le sel Ak de niz ate şi (AA A) ta nı lı ço cuklar da fe no tip-ge no tip ko re las yo nu nu ve kli nik şid det sko ru ile akut faz ya nı tı ara sın da ki iliş ki yi araş tır mak tı. G Ge e r re eç ç v ve e Y Yö ön n t te em m l le er r: : MEFV ge nin de mu tas yon sap ta nan AA A ta nı lı 87 ço cu ğun (orta la ma yaş: 11.1 ± 3.6 yıl; ara lık: 3-20 yıl; ta nı anın da ki or ta la ma yaş: 8.3 ± 3.5 yıl; or ta la ma iz lem sü re si: 31.2 ± 27.7 ay; kız: %55.2) tıb bi ka yıt la rı ge ri ye dö nük ola rak göz den ge çi ril di. Tel Has homer ta nı kri ter le ri ve şid det sko ru kul la nıl dı. Atak sı ra sın da ki be yaz kü re sa yı sı (BKS), C-re ak tif pro te in (CRP) ve erit ro sit se di men tas yon hı zı (ESH) ile kli nik şid det sko ru ara sın da ki ko re las yonlar araş tı rıl dı. Has ta lar bir ve ya iki alel de mu tas yon ol ma du ru mu ve M694V mu tas yo nu nun var lı -ğı na gö...

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Section: Discussionmentioning

confidence: 67%

The Effect of M694V Mutation on Clinical Presentation and Acute Phase Response in Children with Familial Mediterranean Fever: Single Center Experience in Western Turkey

Anıl¹,

Anıl²,

Ertaner³

et al. 2011

Turkiye Klinikleri J Med Sci

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“…In other studies, the prevalence of M694V mutation was reported as 48%, 71.3% and 74.3%, respectively (Yilmaz et al 2001;Ertekin et al 2005;Inal et al 2008). Phenotype and genotype correlation in FMF has not been explained definitely, but an increased risk of amyloidosis among M694V homozygotes was reported (Paut et al 2000;Yilmaz et al 2003;Dusunsel et al 2008). A recent research showed that the homozygous for M694V and the compound heterozygous for M694V were associated with a severe clinical course of FMF (Inal et al 2008).…”

Section: Discussionmentioning

confidence: 96%

Increased Serum Osteoprotegerin Levels Associated with Decreased Bone Mineral Density in Familial Mediterranean Fever

Yüksel

Şamlı

Çölbay

et al. 2009

Tohoku J. Exp. Med.

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“…Recent Turkish FMF Study Group records (including both adults and children) document a 1.2:1 (male: female) ratio. 8 The most serious complication of disease is amyloidosis, caused by tissue deposition of serum amyloid A, most notably in kidneys that ultimately leads to end-stage renal failure. 9 The type of mutation has been suggested to establish the severity of the disease.…”

Section: Discussionmentioning

confidence: 99%

“…1 Two major studies from Turkey find no association between the development of amyloidosis and M694V homozygosis, but according to study of Düşünsel et al, M694V homozygote genotype clearly forms a predisposition to development of amyloidosis. 8 The associations of M694V homozygosis with a more severe form of the disease and with a higher frequency of amyloidosis is reported although genotype-phenotype correlation is not well established. Nevertheless, in several other studies, the association of M694V mutation seems not prevalent among FMF patients, especially in Turks.…”

Section: Discussionmentioning

confidence: 99%

MEFV Gene Mutations in a Sample of Turkish Population: A Retrospective Study

Ceylan¹,

Tekedereli²

2011

Turkiye Klinikleri J Med Sci

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amilial Mediterranean fever (FMF) is a hereditary inflammatory disease characterized by recurrent attacks of fever and serositis. It affects more than 100000 patients worldwide. The disease is transmitted in Turkiye Klinikleri J Med Sci 2011;31(6) 1317 MEFV Gene Mutations in a Sample of Turkish Population:A Retrospective Study A AB BS S T TR RA AC CT T O Ob b j je ec c t ti i v ve e: : Fa mi li al Me di ter ra ne an fe ver (FMF) is a he re di tary inf lam ma tory di se a se cha rac te ri zed by re cur rent at tacks of fe ver and se ro si tis. FMF is ca u sed by mu ta ti ons in the pro te in of MEFV ge ne (ma re nos trin). So far 152 mu ta ti ons and poly morp hisms ha ve be en iden ti fi ed. The five most com mon mu ta ti ons are M694V, M680I, M694I, E148Q, and V726A, most of which are cluste red on exon 10 and the se mu ta ti ons ac co unt for 74% FMF mu ta ti ons among Jews, Turks, Arabs and Ar me ni ans. In this ret ros pec ti ve study, we ai med to in ves ti ga te the spec trum of 12 MEFV mu ta tions and ge noty pes among Tur kish FMF pa ti ents re fer red from Me di cal Ge ne tics De part ment at Anka ra Ata turk Edu ca ti on and Tra i ning Hos pi tal lo ca ted in the cen tral re gi on of Tur key. M Ma a t te e r ri i a al l a an nd d M Me et t h ho od ds s: : We per for med re ver se hybri di za ti on (RH) met hod for de tec ting MEFV ge ne mu ta ti ons. R Re e--s su ul lt ts s: : We de tec ted dif fe rent ge noty pes in 288 (54%) of 532 ca ses by RH. Forty-six of the ca ses we re ho mozy go te for one mu ta ti on, 155 we re he te rozy go te, 87 we re com po und he te rozy go te for two diffe rent mu ta ti ons. No mu ta ti on was de tec ted in the re ma i ning 244 (46%) ca ses. The most frequent mu ta ti ons were M694V, fol lo wed by E148Q, M680I(G/C) and V726A. C Co on nc c l lu u s si i o on n: : Sin ce FMF is an im por tant di se a se be ca u se of its comp li ca ti ons, ge ne tic tests must be per for med for the pa ti ents with FMF cri te ri a and cli ni ci ans ha ve to be mo re ca re ful abo ut this di se a se.K Ke ey y W Wo or rd ds s: : Fa mi li al me di ter ra ne an fe ver; ma re nos trin; mu ta ti on Ö ÖZ ZE ET T A Am ma aç ç: : Ai le vi Ak de niz ate şi (FMF, fa mi li al Me di ter ra ne an fe ver) tek rar la yı cı ateş ve se ro zit atak la rı ile ka rak te ri ze he re di ter, inf la ma tu ar bir has ta lık tır. FMF'e MEFV ge ni pro te i nin de ki (mare nos trin) mu tas yon lar ne den ol mak ta dır. Gü nü mü ze dek 152 mu tas yon ve po li mor fizm ta nım lanmış tır. En sık göz le nen mu tas yon lar ço ğun luk la exon 10'da top lan mış olan ve Ya hu di ler, Türk ler, Arap lar ve Er me ni ler de ki FMF mu tas yon la rı nın %74'ün den so rum lu olan M694V, M680I, M694I, E148Q ve V726A' dır. Ret ros pek tif olan bu ça lış ma da An ka ra Ata türk Eği tim ve Araş tır ma Has tane si Tıb bi Ge ne tik Ana Bi lim Da lı' na sevk edi len Türk FMF has ta la rın da 12 MEFV mu tas yo nu ve ge no tip le ri nin spek tru mu nu araş tır mak amaç lan dı. G Ge e r re eç ç v ve e Y Yö ön n t te em m l le er r: : MEFV ...

show abstract

Genotype–phenotype correlation in children with familial Mediterranean fever in a Turkish population

Cited by 72 publications

References 16 publications

The Effect of M694V Mutation on Clinical Presentation and Acute Phase Response in Children with Familial Mediterranean Fever: Single Center Experience in Western Turkey

The Effect of M694V Mutation on Clinical Presentation and Acute Phase Response in Children with Familial Mediterranean Fever: Single Center Experience in Western Turkey

Increased Serum Osteoprotegerin Levels Associated with Decreased Bone Mineral Density in Familial Mediterranean Fever

MEFV Gene Mutations in a Sample of Turkish Population: A Retrospective Study

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