Article
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Ophthalmology - 1 Jun 2011
Mohney Brian G, Pulido Jose S, Lindor Noralane M, Hogan Marie C, Consugar Mark B, Peters Justin, Pankratz V Shane, Nasr Samih H, Smith Stephen J, Gloor James, Kubly Vickie, Spencer Dorothy, Nielson Rebecca, Puffenberger Erik G, Strauss Kevin A, Morton D Holmes, Eldahdah Lama, Harris Peter C
Abstract excerpt
PURPOSE: To describe a novel laminin β-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome. DESIGN: Retrospective chart review and prospective family examination. PARTICIPANTS: An extended consanguineous family of 52 members. METHODS: The eyes, urine, and serum DNA were evaluated in all family members after...
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