PKD2 Mutations in Czech Population with Autosomal Dominant
Polycystic Kidney Disease

J 2004

PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease

ŠTEKROVÁ, Jitka, Jana REITEROVÁ, Miroslav MERTA, Jiří DAMBORSKÝ, Jana ŽÍDOVSKÁ et. al.

Základní údaje

Originální název

PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease

Název česky

PKD2 mutace v české populaci s autozomálně dominantním polycystickým onemocnění jater.

Autoři

ŠTEKROVÁ, Jitka (203 Česká republika), Jana REITEROVÁ (203 Česká republika), Miroslav MERTA (203 Česká republika), Jiří DAMBORSKÝ (203 Česká republika, garant), Jana ŽÍDOVSKÁ (203 Česká republika), Věra KEBRDLOVÁ (203 Česká republika) a Milada KOHOUTOVÁ (203 Česká republika)

Vydání

Nephrology Dialysis Transplantation, UK, 2004, 1460-2385

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.840

Kód RIV

RIV/00216224:14310/04:00010416

Organizační jednotka

Přírodovědecká fakulta

UT WoS

000221411200015

Klíčová slova anglicky

Mutation; Kidney Disease

Štítky

Kidney Disease, Mutation

Změněno: 19. 3. 2010 12:10, prof. Mgr. Jiří Damborský, Dr.

Anotace

ORIG CZ

V originále

Abstract: Background. Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for about 15% cases of the disease, based on linkage analysis. PKD2 linked ADPKD is supposed to be milder form of the disease, with a mean age of end-stage renal failure (ESRF) approximately 20 years later than PKD1. Methods. We screened all coding sequences of the PKD2 gene in 115 Czech patients. 52 patients (29 males, 23 females) who reached ESRF after 63 years of age and 10 patients who were not undergoing renal replacement therapy at that age (3 males, 7 females) were selected from dialysis centers from Czech Republic and from Department of Nephrology of General Hospital in Prague. The age 63 years was used as the cutoff value because it is between the age of onset of ESRF for PKD1 and PKD2 published in recent studies. 53 patients (26 males, 27 females) were selected from the PKD families who could be linked either to the PKD1 gene or PKD2 gene according to linkage analysis (without clear information about their clinical course). An affected member from each family was analyzed by heteroduplex analysis (HA) for all 15 coding regions. Samples exhibiting shifted bands on gels were sequenced. Results. We detected twenty two mutations (six new mutations), 14 mutation in 62 patients (23%) with mild clinical course, 8 mutations in 53 families (15%) with possible linkage to both PKD genes. As the detection rate of HA is about 70-80%, we estimate the 18-20% prevalence of PKD2 cases in ADPKD Czech population. We described two cases with severe form of ADPKD and PKD2 mutation. We identified the nonsense mutations in eight patients (36.5%), the frameshifting mutations in twelve patients (54.5%) and two missense mutations (9%). Conclusion. We detected twenty mutations (six new mutations). We established the 18-20% prevalence of PKD2 cases of ADPKD in Czech Republic without known clinical course and 23% prevalence in a group of ADPKD patients with milder clinical course. The mean age of ESRF of PKD2 patients in Czech population was 68.3_4 years (from 64 years to 80 years).. We identified the insertion of a cytosine in exon 1 in six non related Czech patients. This seems to be at least a weak hot spot for mutations of PKD2 gene. We described two PKD2 cases with severe clinical course.

Česky

Autozomálně dominantní polycystické onemocnění jater (ADPKD) je geneticky heterigenní onemocnění způsobené minimálně třemi různými lokusy. Podle vazebné analýzy mutace v PKD2 genu způsobují přibližně 15% případů onemocnění.

Návaznosti

LN00A016, projekt VaV

Název: BIOMOLEKULÁRNÍ CENTRUM

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Biomolekulární centrum

Citovat

ŠTEKROVÁ, Jitka, Jana REITEROVÁ, Miroslav MERTA, Jiří DAMBORSKÝ, Jana ŽÍDOVSKÁ, Věra KEBRDLOVÁ a Milada KOHOUTOVÁ. PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease. Nephrology Dialysis Transplantation. UK, 2004, roč. 2004, č. 19, s. 1116-1122. ISSN 1460-2385.

@article{560117,
   author = {Štekrová, Jitka and Reiterová, Jana and Merta, Miroslav and Damborský, Jiří and Žídovská, Jana and Kebrdlová, Věra and Kohoutová, Milada},
   article_location = {UK},
   article_number = {19},
   keywords = {Mutation; Kidney Disease},
   language = {eng},
   issn = {1460-2385},
   journal = {Nephrology Dialysis Transplantation},
   title = {PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease},
   url = {http://ncbr.chemi.muni.cz/~jiri/abstracts/ndt04.html},
   volume = {2004},
   year = {2004}
}

TY  - JOUR
ID  - 560117
AU  - Štekrová, Jitka - Reiterová, Jana - Merta, Miroslav - Damborský, Jiří - Žídovská, Jana - Kebrdlová, Věra - Kohoutová, Milada
PY  - 2004
TI  - PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease
JF  - Nephrology Dialysis Transplantation
VL  - 2004
IS  - 19
SP  - 1116-1122
EP  - 1116-1122
SN  - 14602385
KW  - Mutation
KW  - Kidney Disease
UR  - http://ncbr.chemi.muni.cz/~jiri/abstracts/ndt04.html
N2  - Abstract: Background. Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for about 15% cases of the disease, based on linkage analysis. PKD2 linked ADPKD is supposed to be milder form of the disease, with a mean age of end-stage renal failure (ESRF) approximately 20 years later than PKD1. Methods. We screened all coding sequences of the PKD2 gene in 115 Czech patients. 52 patients (29 males, 23 females) who reached ESRF after 63 years of age and 10 patients who were not undergoing renal replacement therapy at that age (3 males, 7 females) were selected from dialysis centers from Czech Republic and from Department of Nephrology of General Hospital in Prague. The age 63 years was used as the cutoff value because it is between the age of onset of ESRF for PKD1 and PKD2 published in recent studies. 53 patients (26 males, 27 females) were selected from the PKD families who could be linked either to the PKD1 gene or PKD2 gene according to linkage analysis (without clear information about their clinical course). An affected member from each family was analyzed by heteroduplex analysis (HA) for all 15 coding regions. Samples exhibiting shifted bands on gels were sequenced. Results. We detected twenty two mutations (six new mutations), 14 mutation in 62 patients (23%) with mild clinical course, 8 mutations in 53 families (15%) with possible linkage to both PKD genes. As the detection rate of HA is about 70-80%, we estimate the 18-20% prevalence of PKD2 cases in ADPKD Czech population. We described two cases with severe form of ADPKD and PKD2 mutation. We identified the nonsense mutations in eight patients (36.5%), the frameshifting mutations in twelve patients (54.5%) and two missense mutations (9%). Conclusion. We detected twenty mutations (six new mutations). We established the 18-20% prevalence of PKD2 cases of ADPKD in Czech Republic without known clinical course and 23% prevalence in a group of ADPKD patients with milder clinical course. The mean age of ESRF of PKD2 patients in Czech population was 68.3_4 years (from 64 years to 80 years).. We identified the insertion of a cytosine in exon 1 in six non related Czech patients. This seems to be at least a weak hot spot for mutations of PKD2 gene. We described two PKD2 cases with severe clinical course.
ER  -

ŠTEKROVÁ, Jitka, Jana REITEROVÁ, Miroslav MERTA, Jiří DAMBORSKÝ, Jana ŽÍDOVSKÁ, Věra KEBRDLOVÁ a Milada KOHOUTOVÁ. PKD2 Mutations in Czech Population with Autosomal Dominant Polycystic Kidney Disease. \textit{Nephrology Dialysis Transplantation}. UK, 2004, roč.~2004, č.~19, s.~1116-1122. ISSN~1460-2385.

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