Article
A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure.
European journal of pediatrics - 1 Apr 2017
Falix Farah A, Bennebroek Carlien A M, van der Zwaag Bert, Lapid-Gortzak Ruth, Florquin Sandrine, Oosterveld Michiel J S
Abstract excerpt
This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings. The c.970T>C p.(Cys324Arg) mutation in the LAMB2 gene affects one of the eight highly conserved cysteine residues within the first EGF-like module of the laminin β2 protein. These residues form disulfide bonds in order to achieve a correct 3D structure of...
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