|
|||||
|
|
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability |
|
| Authors: | O. Ortega‐Recalde O.I. Beltrán J.M. Gálvez A. Palma‐Montero C.M. Restrepo H.E. Mateus P. Laissue |
| Affiliation: | 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 |
| 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: | exome sequencing HERC1 mutations intellectual disability HERC1 mutations overgrowth |