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

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 fo...

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Veröffentlicht in:Clinical genetics 2015-10, Vol.88 (4), p.e1-e3
Hauptverfasser: Ortega-Recalde, O., Beltrán, O.I., Gálvez, J.M., Palma-Montero, A., Restrepo, C.M., Mateus, H.E., Laissue, P.
Format: Artikel
Sprache:eng
Schlagworte:
DNA Mutational Analysis
exome sequencing
Female
Genetic Association Studies
Genome, Human
Genotype & phenotype
Growth Disorders - genetics
Growth Disorders - pathology
Guanine Nucleotide Exchange Factors - genetics
HERC1 mutations
Humans
Intellectual disabilities
intellectual disability
Intellectual Disability - genetics
Intellectual Disability - pathology
Male
Mutation
overgrowth
Siblings
Syndrome
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Zusammenfassung: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12634