Article
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Human mutation - 1 Sept 2010
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
Abstract excerpt
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 beta2, which is incorporated in specific heterotrimeric laminin isoforms and has an expression pattern...
Topics
- Genetic Association Studies
- Genetic Predisposition to Disease
- Haplotypes
- Humans
- Laminin
- Mutation
- Phenotype