Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

Clin. Genet.2015 Oct;88(4):e1-3. doi:10.1111/cge.12634. Epub 2015 Jul 27

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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.

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Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

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