-
Something wrong with this record ?
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
M. Živná, K. Kidd, A. Přistoupilová, V. Barešová, M. DeFelice, B. Blumenstiel, M. Harden, P. Conlon, P. Lavin, DM. Connaughton, H. Hartmannová, K. Hodaňová, V. Stránecký, A. Vrbacká, P. Vyleťal, J. Živný, M. Votruba, J. Sovová, H. Hůlková, V....
Language English Country United States
Document type Journal Article, Multicenter Study, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't
Grant support
NV17-29786A
MZ0
CEP Register
Digital library NLK
Full text - Article
NLK
Free Medical Journals
from 1990 to 1 year ago
PubMed Central
from 2008 to 1 year ago
Europe PubMed Central
from 2008 to 1 year ago
Open Access Digital Library
from 1990-07-01
- MeSH
- Genetic Predisposition to Disease epidemiology MeSH
- Risk Assessment MeSH
- Immunohistochemistry MeSH
- Incidence MeSH
- Biopsy, Needle MeSH
- Humans MeSH
- Mucin-1 genetics MeSH
- Mutation genetics MeSH
- Polycystic Kidney, Autosomal Dominant genetics mortality pathology MeSH
- Prognosis MeSH
- Registries MeSH
- Retrospective Studies MeSH
- Pedigree MeSH
- Case-Control Studies MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
BACKGROUND: Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene (MUC1) mutations (ADTKD-MUC1) is characterized by progressive kidney failure. Genetic evaluation for ADTKD-MUC1 specifically tests for a cytosine duplication that creates a unique frameshift protein (MUC1fs). Our goal was to develop immunohistochemical methods to detect the MUC1fs created by the cytosine duplication and, possibly, by other similar frameshift mutations and to identify novel MUC1 mutations in individuals with positive immunohistochemical staining for the MUC1fs protein. METHODS: We performed MUC1fs immunostaining on urinary cell smears and various tissues from ADTKD-MUC1-positive and -negative controls as well as in individuals from 37 ADTKD families that were negative for mutations in known ADTKD genes. We used novel analytic methods to identify MUC1 frameshift mutations. RESULTS: After technique refinement, the sensitivity and specificity for MUC1fs immunostaining of urinary cell smears were 94.2% and 88.6%, respectively. Further genetic testing on 17 families with positive MUC1fs immunostaining revealed six families with five novel MUC1 frameshift mutations that all predict production of the identical MUC1fs protein. CONCLUSIONS: We developed a noninvasive immunohistochemical method to detect MUC1fs that, after further validation, may be useful in the future for diagnostic testing. Production of the MUC1fs protein may be central to the pathogenesis of ADTKD-MUC1.
Broad Institute of Harvard and Massachusetts Institute of Technology Cambridge Massachusetts
Department of Medicine Harvard Medical School Boston Massachusetts
Department of Nephrology Beaumont Hospital Dublin Ireland Royal College of Surgeons Dublin Ireland
Department of Paediatrics 2nd Faculty of Medicine Charles University Prague Czech Republic
Institute of Pathophysiology 1st Faculty of Medicine
Nephrology Department Institute for Clinical and Experimental Medicine Prague Czech Republic
Section on Nephrology Wake Forest School of Medicine Winston Salem North Carolina
Trinity Health Kidney Centre Tallaght Hospital Dublin Ireland
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc19035151
- 003
- CZ-PrNML
- 005
- 20191014131739.0
- 007
- ta
- 008
- 191007s2018 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1681/ASN.2018020180 $2 doi
- 035 __
- $a (PubMed)29967284
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Živná, Martina $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 245 10
- $a Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease / $c M. Živná, K. Kidd, A. Přistoupilová, V. Barešová, M. DeFelice, B. Blumenstiel, M. Harden, P. Conlon, P. Lavin, DM. Connaughton, H. Hartmannová, K. Hodaňová, V. Stránecký, A. Vrbacká, P. Vyleťal, J. Živný, M. Votruba, J. Sovová, H. Hůlková, V. Robins, R. Perry, A. Wenzel, BB. Beck, T. Seeman, O. Viklický, S. Rajnochová-Bloudíčková, G. Papagregoriou, CC. Deltas, SL. Alper, A. Greka, AJ. Bleyer, S. Kmoch,
- 520 9_
- $a BACKGROUND: Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene (MUC1) mutations (ADTKD-MUC1) is characterized by progressive kidney failure. Genetic evaluation for ADTKD-MUC1 specifically tests for a cytosine duplication that creates a unique frameshift protein (MUC1fs). Our goal was to develop immunohistochemical methods to detect the MUC1fs created by the cytosine duplication and, possibly, by other similar frameshift mutations and to identify novel MUC1 mutations in individuals with positive immunohistochemical staining for the MUC1fs protein. METHODS: We performed MUC1fs immunostaining on urinary cell smears and various tissues from ADTKD-MUC1-positive and -negative controls as well as in individuals from 37 ADTKD families that were negative for mutations in known ADTKD genes. We used novel analytic methods to identify MUC1 frameshift mutations. RESULTS: After technique refinement, the sensitivity and specificity for MUC1fs immunostaining of urinary cell smears were 94.2% and 88.6%, respectively. Further genetic testing on 17 families with positive MUC1fs immunostaining revealed six families with five novel MUC1 frameshift mutations that all predict production of the identical MUC1fs protein. CONCLUSIONS: We developed a noninvasive immunohistochemical method to detect MUC1fs that, after further validation, may be useful in the future for diagnostic testing. Production of the MUC1fs protein may be central to the pathogenesis of ADTKD-MUC1.
- 650 _2
- $a jehlová biopsie $7 D001707
- 650 _2
- $a studie případů a kontrol $7 D016022
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a genetická predispozice k nemoci $x epidemiologie $7 D020022
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a imunohistochemie $7 D007150
- 650 _2
- $a incidence $7 D015994
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a mucin 1 $x genetika $7 D018396
- 650 _2
- $a mutace $x genetika $7 D009154
- 650 _2
- $a rodokmen $7 D010375
- 650 _2
- $a polycystické ledviny autozomálně dominantní $x genetika $x mortalita $x patologie $7 D016891
- 650 _2
- $a prognóza $7 D011379
- 650 _2
- $a registrace $7 D012042
- 650 _2
- $a retrospektivní studie $7 D012189
- 650 _2
- $a hodnocení rizik $7 D018570
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a multicentrická studie $7 D016448
- 655 _2
- $a Research Support, N.I.H., Extramural $7 D052061
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Kidd, Kendrah $u Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
- 700 1_
- $a Přistoupilová, Anna $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 700 1_
- $a Barešová, Veronika $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 700 1_
- $a DeFelice, Mathew $u Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
- 700 1_
- $a Blumenstiel, Brendan $u Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
- 700 1_
- $a Harden, Maegan $u Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
- 700 1_
- $a Conlon, Peter $u Department of Nephrology, Beaumont Hospital, Dublin, Ireland. Royal College of Surgeons, Dublin, Ireland.
- 700 1_
- $a Lavin, Peter $u Trinity Health Kidney Centre, Tallaght Hospital, Dublin, Ireland.
- 700 1_
- $a Connaughton, Dervla M $u Department of Nephrology, Beaumont Hospital, Dublin, Ireland. Trinity Health Kidney Centre, Tallaght Hospital, Dublin, Ireland.
- 700 1_
- $a Hartmannová, Hana $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 700 1_
- $a Hodaňová, Kateřina $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 700 1_
- $a Stránecký, Viktor $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 700 1_
- $a Vrbacká, Alena $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 700 1_
- $a Vyleťal, Petr $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 700 1_
- $a Živný, Jan $u Institute of Pathophysiology, First Faculty of Medicine.
- 700 1_
- $a Votruba, Miroslav $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 700 1_
- $a Sovová, Jana $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
- 700 1_
- $a Hůlková, Helena $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine. Institute of Pathology, First Faculty of Medicine, and.
- 700 1_
- $a Robins, Victoria $u Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
- 700 1_
- $a Perry, Rebecca $u Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
- 700 1_
- $a Wenzel, Andrea $u Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
- 700 1_
- $a Beck, Bodo B $u Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
- 700 1_
- $a Seeman, Tomáš $u Department of Paediatrics, Second Faculty of Medicine, Charles University, Prague, Czech Republic.
- 700 1_
- $a Viklický, Ondřej $u Nephrology Department, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
- 700 1_
- $a Rajnochová-Bloudíčková, Sylvie $u Nephrology Department, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
- 700 1_
- $a Papagregoriou, Gregory $u Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.
- 700 1_
- $a Deltas, Constantinos C $u Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.
- 700 1_
- $a Alper, Seth L $u Division of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
- 700 1_
- $a Greka, Anna $u Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts. Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts; and. Department of Medicine, Harvard Medical School, Boston, Massachusetts.
- 700 1_
- $a Bleyer, Anthony J $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, ableyer@wakehealth.edu. Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
- 700 1_
- $a Kmoch, Stanislav $u Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine. Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
- 773 0_
- $w MED00002977 $t Journal of the American Society of Nephrology : JASN $x 1533-3450 $g Roč. 29, č. 9 (2018), s. 2418-2431
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/29967284 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20191007 $b ABA008
- 991 __
- $a 20191014132203 $b ABA008
- 999 __
- $a ok $b bmc $g 1451811 $s 1073701
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2018 $b 29 $c 9 $d 2418-2431 $e 20180702 $i 1533-3450 $m Journal of the American Society of Nephrology $n J Am Soc Nephrol $x MED00002977
- GRA __
- $a NV17-29786A $p MZ0
- LZP __
- $a Pubmed-20191007
