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...
| Autores: | , , , , , , |
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| Formato: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2015 |
| País: | Colombia |
| Recursos: | Universidad del Rosario |
| Repositorio: | Repositorio EdocUR - U. Rosario |
| Idioma: | inglés |
| OAI Identifier: | oai:repository.urosario.edu.co:10336/23680 |
| Acesso em linha: | https://doi.org/10.1111/cge.12634 https://repository.urosario.edu.co/handle/10336/23680 |
| Access Level: | acceso abierto |
| Palavra-chave: | 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 Mutation Pathology Syndrome Guanine nucleotide exchange factor Genetic association studies Growth disorders Guanine nucleotide exchange factors Humans Intellectual disability Exome sequencing Herc1 mutations Overgrowth human Herc1 protein Genome |
| Resumo: | 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. |
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