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

O Ortega-Recalde; O I Beltrán; J M Gálvez; A Palma-Montero; C M Restrepo; H E Mateus; P Laissue

doi:10.1111/cge.12634

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.

Authors

O Ortega-Recalde¹, O I Beltrán^{2

3}, J M Gálvez¹, A Palma-Montero¹, C M Restrepo¹, H E Mateus¹, P Laissue¹

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

DNA Mutational Analysis
Female
Genetic Association Studies
Genome, Human
Growth Disorders / genetics*
Growth Disorders / pathology
Guanine Nucleotide Exchange Factors / genetics*
Humans
Intellectual Disability / genetics*
Intellectual Disability / pathology
Male
Mutation*
Syndrome
Ubiquitin-Protein Ligases

Substances

Guanine Nucleotide Exchange Factors
HERC1 protein, human
Ubiquitin-Protein Ligases