A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

ConclusionThis case emphasizes the variable expressivity of the 2q14 microdeletion and reinforces the hypothesis that agenesis of corpus callosum, microcephaly, developmental delay, and distinctive craniofacial features may be part of the phenotypic spectrum characterizing the affected patients. We suggest that GLI2 is a dosage‐sensitive gene that may be responsible for the agenesis of corpus callosum observed in the proband. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc.

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - May 31, 2016 Category: Perinatology & Neonatology Authors: Carole Goumy, Mathilde Gay‐Bellile, Gaelle Salaun, Stephan Kemeny, Eleonore Eymard‐Pierre, Marie Biard, Celine Pebrel‐Richard, Philippe Vanlieferinghen, Christine Francannet, Andrei Tchirkov, Helene Laurichesse, Charles Rouzade, Laetitia Gouas, Phil Tags: Brief Report Source Type: research