Mutations in the human laminin Β2 ( LAMB2 ) gene and the associated phenotypic spectrum a
dc.contributor.author | Matejas, Verena | en_US |
dc.contributor.author | Hinkes, Bernward | en_US |
dc.contributor.author | Alkandari, Faisal | en_US |
dc.contributor.author | Al-Gazali, Lihadh | en_US |
dc.contributor.author | Annexstad, Ellen | en_US |
dc.contributor.author | Aytac, Mehmet B. | en_US |
dc.contributor.author | Barrow, Margaret | en_US |
dc.contributor.author | Bláhová, Kveta | en_US |
dc.contributor.author | Bockenhauer, Detlef | en_US |
dc.contributor.author | Cheong, Hae Il | en_US |
dc.contributor.author | Maruniak-Chudek, Iwona | en_US |
dc.contributor.author | Cochat, Pierre | en_US |
dc.contributor.author | Dötsch, Jörg | en_US |
dc.contributor.author | Gajjar, Priya | en_US |
dc.contributor.author | Hennekam, Raoul C. | en_US |
dc.contributor.author | Janssen, Françoise | en_US |
dc.contributor.author | Kagan, Mikhail | en_US |
dc.contributor.author | Kariminejad, Ariana | en_US |
dc.contributor.author | Kemper, Markus J. | en_US |
dc.contributor.author | Koenig, Jens | en_US |
dc.contributor.author | Kogan, Jillene | en_US |
dc.contributor.author | Kroes, Hester Y. | en_US |
dc.contributor.author | Kuwertz-Bröking, Eberhard | en_US |
dc.contributor.author | Lewanda, Amy F. | en_US |
dc.contributor.author | Medeira, Ana | en_US |
dc.contributor.author | Muscheites, Jutta | en_US |
dc.contributor.author | Niaudet, Patrick | en_US |
dc.contributor.author | Pierson, Michel | en_US |
dc.contributor.author | Saggar, Anand | en_US |
dc.contributor.author | Seaver, Laurie | en_US |
dc.contributor.author | Suri, Mohnish | en_US |
dc.contributor.author | Tsygin, Alexey | en_US |
dc.contributor.author | Wühl, Elke | en_US |
dc.contributor.author | Zurowska, Aleksandra | en_US |
dc.contributor.author | Uebe, Steffen | en_US |
dc.contributor.author | Hildebrandt, Friedhelm | en_US |
dc.contributor.author | Antignac, Corinne | en_US |
dc.contributor.author | Zenker, Martin | en_US |
dc.date.accessioned | 2010-10-06T14:54:13Z | |
dc.date.available | 2011-03-01T16:26:42Z | en_US |
dc.date.issued | 2010-09 | en_US |
dc.identifier.citation | Matejas, Verena; Hinkes, Bernward; Alkandari, Faisal; Al-Gazali, Lihadh; Annexstad, Ellen; Aytac, Mehmet B.; Barrow, Margaret; BlÁhovÁ, Kveta; Bockenhauer, Detlef; Cheong, Hae Il; Maruniak-Chudek, Iwona; Cochat, Pierre; DÖtsch, JÖrg; Gajjar, Priya; Hennekam, Raoul C.; Janssen, FranÇoise; Kagan, Mikhail; Kariminejad, Ariana; Kemper, Markus J.; Koenig, Jens; Kogan, Jillene; Kroes, Hester Y.; Kuwertz-BrÖking, Eberhard; Lewanda, Amy F.; Medeira, Ana; Muscheites, Jutta; Niaudet, Patrick; Pierson, Michel; Saggar, Anand; Seaver, Laurie; Suri, Mohnish; Tsygin, Alexey; WÜhl, Elke; Zurowska, Aleksandra; Uebe, Steffen; Hildebrandt, Friedhelm; Antignac, Corinne; Zenker, Martin (2010). "Mutations in the human laminin Β2 ( LAMB2 ) gene and the associated phenotypic spectrum a." Human Mutation 31(9): 992-1002. <http://hdl.handle.net/2027.42/78049> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/78049 | |
dc.description.abstract | Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic abnormalities, but may occasionally be associated with milder or oligosymptomatic disease variants. LAMB2 encodes the basement membrane protein laminin Β2, which is incorporated in specific heterotrimeric laminin isoforms and has an expression pattern corresponding to the pattern of organ manifestations in Pierson syndrome. Herein we review all previously reported and several novel LAMB2 mutations in relation to the associated phenotype in patients from 39 unrelated families. The majority of disease-causing LAMB2 mutations are truncating, consistent with the hypothesis that loss of laminin Β2 function is the molecular basis of Pierson syndrome. Although truncating mutations are distributed across the entire gene, missense mutations are clearly clustered in the N-terminal LN domain, which is important for intermolecular interactions. There is an association of missense mutations and small in frame deletions with a higher mean age at onset of renal disease and with absence of neurologic abnormalities, thus suggesting that at least some of these may represent hypomorphic alleles. Nevertheless, genotype alone does not appear to explain the full range of clinical variability, and therefore hitherto unidentified modifiers are likely to exist. Hum Mutat 31:992–1002, 2010. © 2010 Wiley-Liss, Inc. | en_US |
dc.format.extent | 261815 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Mutations in the human laminin Β2 ( LAMB2 ) gene and the associated phenotypic spectrum a | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Pediatric Nephrology, University Children's Hospital, Erlangen, Germany ; Howard Hughes Medical Institute and Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, Michican | en_US |
dc.contributor.affiliationum | Howard Hughes Medical Institute and Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, Michican | en_US |
dc.contributor.affiliationother | Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Germany | en_US |
dc.contributor.affiliationother | Nephrology Unit, Pediatric Department, Mubarak Alkabeer Hospital, Kuwait | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates | en_US |
dc.contributor.affiliationother | NICU Oslo University Hospital, Oslo, Norway | en_US |
dc.contributor.affiliationother | Department of Pediatric Nephrology, Istanbul University, CerrahpaÞa Medical Faculty, Istanbul, Turkey | en_US |
dc.contributor.affiliationother | Leicester Royal Infirmary, Leicester, United Kingdom | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University Hospital Motol, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic | en_US |
dc.contributor.affiliationother | Pediatric Nephrology, Great Ormond Street Hospital for Children, London, United Kingdom | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea | en_US |
dc.contributor.affiliationother | Department of Neonatal Intensive Care, Medical University of Silesia, Katowice, Poland | en_US |
dc.contributor.affiliationother | DÉpartement de PÉdiatrie, HÔpital Edouard-Herriot, UniversitÉ Claude-Bernard, Lyon, France | en_US |
dc.contributor.affiliationother | Pediatric Nephrology, University Children's Hospital, Erlangen, Germany | en_US |
dc.contributor.affiliationother | Paediatric Nephrology, Department of Paediatric Medicine, University of Cape Town, South Africa | en_US |
dc.contributor.affiliationother | Department of Clinical Genetics, Great Ormond Street Hospital for Children, Institute of Child Health, UCL, London, United Kingdom, and Department of Pediatrics, Academic Medical Center, UVA, Amsterdam, The Netherlands | en_US |
dc.contributor.affiliationother | Department of Pediatric Nephrology, HÔpital Universitaire des Enfants, Reine Fabiola, UniversitÉ Libre de Bruxelles, Brussels, Belgium | en_US |
dc.contributor.affiliationother | Department of Gastroenterology and Nephrology, Orenburg Regional Children's Hospital, Orenburg, Russia | en_US |
dc.contributor.affiliationother | Kariminejad-Najmabadi Pathology and Genetics Center, Teheran, Iran | en_US |
dc.contributor.affiliationother | Pediatric Nephrology, University Hospital Hamburg–Eppendorf, Hamburg, Germany | en_US |
dc.contributor.affiliationother | University Children's Hospital, Munster, Germany | en_US |
dc.contributor.affiliationother | Department of Human Genetics, Cincinnati Children's Hospital, Cincinnato, Ohio | en_US |
dc.contributor.affiliationother | Department of Medical Genetics, University Medical Center Utrecht, The Netherlands | en_US |
dc.contributor.affiliationother | University Children's Hospital, Munster, Germany | en_US |
dc.contributor.affiliationother | Inova Fairfax Hospital for Children, Falls Church, Virginia | en_US |
dc.contributor.affiliationother | Hospital Santa Maria, Lisbon, Portugal | en_US |
dc.contributor.affiliationother | Pediatric Nephrology, University Children's Hospital, University of Rostock, Germany | en_US |
dc.contributor.affiliationother | Service de Nephrologie Pediatrique, Hopital Necker–Enfants Malades, Paris, France | en_US |
dc.contributor.affiliationother | Emeritus professor of the University Children's Hospital Nancy, France | en_US |
dc.contributor.affiliationother | St. George's University of London, London, United Kingdom | en_US |
dc.contributor.affiliationother | Kapiolani Medical Specialists and Department of Pediatrics, John A. Burns School of Medicine, Honolulu, Hawaii | en_US |
dc.contributor.affiliationother | Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom | en_US |
dc.contributor.affiliationother | Nephrology, The Scientific Center of Children's Health, Moscow, Russia | en_US |
dc.contributor.affiliationother | Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University of Heidelberg, Germany | en_US |
dc.contributor.affiliationother | Department Pediatric & Adolescent Nephrology & Hypertension, Medical University Gdansk, Gdansk, Poland | en_US |
dc.contributor.affiliationother | Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Germany | en_US |
dc.contributor.affiliationother | UniversitÉ Paris Descartes, Inserm U574, and Assistance Publique-HÔpitaux de Paris (AP-HP), DÉpartement de GÉnÉtique, HÔpital Necker-Enfants Malades, Paris, France | en_US |
dc.contributor.affiliationother | Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Germany ; Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany ; Institute of Human Genetics, University Hospital Magdeburg, Leipziger Strasse 44, 39120 Magdeburg, Germany | en_US |
dc.identifier.pmid | 20556798 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/78049/1/21304_ftp.pdf | |
dc.identifier.doi | 10.1002/humu.21304 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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