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

Carole GoumyMathilde Gay-BellileGaelle SalaunStephan KemenyEleonore Eymard-PierreMarie BiardCeline Pebrel-RichardPhilippe VanlieferinghenChristine FrancannetAndrei TchirkovHelene LaurichesseCharles RouzadeLaetitia GouasPhilippe Vago

Published in: Birth defects research. Part A, Clinical and molecular teratology (2016)

This 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) 106:793-797, 2016. © 2016 Wiley Periodicals, Inc.

Keyphrases

end stage renal disease
ejection fraction
zika virus
chronic kidney disease
newly diagnosed
intellectual disability
prognostic factors
gene expression
copy number
peritoneal dialysis
pregnant women
genome wide