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

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. © 2015 John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.

• Fecha de publicación: 2015
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/23680
• Acceso en línea: https://doi.org/10.1111/cge.12634; https://repository.urosario.edu.co/handle/10336/23680
• Palabra clave: Allele; Article; Case report; Clinical feature; Colombian; Exome; Face dysmorphia; Female; Gene; Genotype phenotype correlation; Herc 1 gene; Human; Intellectual impairment; Male; Molecular diagnosis; Newborn; Pathogenesis; Priority journal; Sequence analysis; Sibling; Dna mutational analysis; Genetic association study; Genetics; Growth disorder; Human genome; Intellectual impairment; Mutation; Pathology; Syndrome; Guanine nucleotide exchange factor; Dna mutational analysis; Female; Genetic association studies; Growth disorders; Guanine nucleotide exchange factors; Humans; Intellectual disability; Male; Mutation; Syndrome; Exome sequencing; Herc1 mutations; Herc1 mutations; Intellectual disability; Overgrowth; human; human; Herc1 protein; Genome
• License: Abierto (Texto Completo)