Diagnosis of an imprinted‐gene syndrome by a novel bioinformatics analysis of whole‐genome sequences from a family trio

We describe a unique bioinformatic analysis of whole‐genome sequences from a family trio designed to identify imprinted gene mutations that are often overlooked by inheritance‐based analyses. Application of this approach to whole‐genome sequencing data from a family with an affected child for whom multiple lines of investigation were nonexplanatory identified a CDKN1C mutation, thereby providing a diagnosis of IMAGe syndrome for the proband.

Source: Molecular Genetics & Genomic Medicine - August 26, 2014 Category: Genetics & Stem Cells Authors: Dale L. Bodian, Benjamin D. Solomon, Alina Khromykh, Dzung C. Thach, Ramaswamy K. Iyer, Kathleen Link, Robin L. Baker, Rajiv Baveja, Joseph G. Vockley, John E. Niederhuber Tags: Original Article Source Type: research