Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

Zenker M., Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wühl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dötsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A.Human Molecular Genetics, 2004

Here, the authors demonstrate that LAMB2 mutations can be consistently found in patients with Pierson syndrome, a newly delineated entity characterized by CNS and distinct ocular anomalies. They point out the importance of laminin β2 for the proper development of structures of the anterior eye segment.