The genetic profile of Leber congenital amaurosis in an Australian cohort

ConclusionThe high resolution rate achieved, equivalent to recent findings using whole exome/genome sequencing, reflects the progression from hypothesis (LCA Panel) to non‐hypothesis (RD Panel) testing and, coupled with Array CGH analysis, is a highly effective first‐tier test for LCA.

Leber congenital amaurosis (LCA) is a severe visual impairment responsible for infantile blindness, representing ~5% of all inherited retinal dystrophies. We present the molecular findings for an Australian LCA cohort, sourced from the Australian Inherited Retinal Disease Registry & DNA Bank, which utilized next‐generation sequencing and Array CGH to resolve 90% of this cohort. The high resolution rate achieved, equivalent to recent findings using whole exome/genome sequencing, reflects the progression from hypothesis (LCA Panel) to non‐hypothesis (RD Panel) testing and, coupled with Array CGH analysis, is a highly effective first‐tier test for LCA.

Source: Molecular Genetics & Genomic Medicine - July 1, 2017 Category: Genetics & Stem Cells Authors: Jennifer A. Thompson, John N. De Roach, Terri L. McLaren, Hannah E. Montgomery, Ling H. Hoffmann, Isabella R. Campbell, Fred K. Chen, David A. Mackey, Tina M. Lamey Tags: Original Article Source Type: research