We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be related to the disease pathogenesis. These results provide useful data for future genotype-phenotype correlations and for a molecular diagnosis of overgrowth.
Keywords: HERC1 mutations; exome sequencing; intellectual disability; overgrowth.
© 2015 John Wiley | Clinical Exome Genome Reports.