2. Academic Validation
  3. Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability

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.
O Ortega-Recalde 1,  O I Beltrán 2 3,  J M Gálvez 1,  A Palma-Montero 1,  C M Restrepo 1,  H E Mateus 1,  P Laissue 1
Affiliations

Affiliations

  • 1 Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
  • 2 Facultad de Medicina, Universidad Militar Nueva Granada, Bogotá, Colombia.
  • 3 Organización Sanitas Internacional, Departamento de Genética, Bogotá, Colombia.
PMID: 26138117 DOI: 10.1111/cge.12634
Abstract

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.

Figures