About: Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum     Goto   Sponge   NotDistinct   Permalink

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Description
  • 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 beta 2, 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 beta 2 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 inter-molecular interactions.
  • 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 beta 2, 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 beta 2 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 inter-molecular interactions. (en)
Title
  • Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum
  • Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum (en)
skos:prefLabel
  • Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum
  • Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum (en)
skos:notation
  • RIV/00064203:_____/10:6298!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita
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  • I
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  • 9
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  • 273267
http://linked.open...ai/riv/idVysledku
  • RIV/00064203:_____/10:6298
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • LAMB2; Pierson syndrome; nephrotic syndrome; autosomal recessive; podocyte; laminin; ocular malformation; congenital nephrosis syndrome; distinct eye abnormalities; pierson-syndrome; mesangial sclerosis; messenger-rna; microcoria; mice; readthrough (en)
http://linked.open.../riv/klicoveSlovo
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  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [FA1967BD385F]
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  • Human Mutation
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http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 31
http://linked.open...iv/tvurceVysledku
  • Bláhová, Květa
  • Cochat, P.
  • Niaudet, P.
  • Zurowska, A.
  • Suri, M.
  • Zenker, M.
  • Al-Gazali, L.
  • Alkandari, F.
  • Annexstad, E.
  • Antignac, C.
  • Aytac, MB
  • Barrow, M.
  • Bockenhauer, D.
  • Cheong, HI
  • Dotsch, J.
  • Gajjar, P.
  • Hennekam, RC
  • Hildebrandt, F.
  • Hinkes, B.
  • Janssen, F.
  • Kagan, M.
  • Kariminejad, A.
  • Kemper, M. J.
  • Koenig, J.
  • Kogan, J.
  • Kroes, HY
  • Kuwertz-Broking, E.
  • Lewanda, A. F
  • Maruniak-Chudek, I.
  • Matejas, V.
  • Medeira, A.
  • Muscheites, J.
  • Pierson, M.
  • Saggar, A.
  • Seaver, L.
  • Tsygin, A.
  • Uebe, S.
  • Wuhl, E.
http://linked.open...ain/vavai/riv/wos
  • 000281631000002
issn
  • 1059-7794
number of pages
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