title: Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.
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.
authors.affiliation: Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
authors.forename: O
authors.initials: O
authors.lastname: Ortega-Recalde
authors.affiliation: Facultad de Medicina, Universidad Militar Nueva Granada, Bogotá, Colombia.|Organización Sanitas Internacional, Departamento de Genética, Bogotá, Colombia.
authors.forename: O I
authors.initials: OI
authors.lastname: Beltrán
authors.affiliation: Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
authors.forename: J M
authors.initials: JM
authors.lastname: Gálvez
authors.affiliation: Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
authors.forename: A
authors.initials: A
authors.lastname: Palma-Montero
authors.affiliation: Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
authors.forename: C M
authors.initials: CM
authors.lastname: Restrepo
authors.affiliation: Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
authors.forename: H E
authors.initials: HE
authors.lastname: Mateus
authors.affiliation: Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
authors.forename: P
authors.initials: P
authors.lastname: Laissue
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D015894:Genome, Human; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D013577:Syndrome; D044767:Ubiquitin-Protein Ligases
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C102169:HERC1 protein, human; D044767:Ubiquitin-Protein Ligases
keywords: HERC1 mutations; exome sequencing; intellectual disability; overgrowth