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Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability
Author(s) -
OrtegaRecalde O.,
Beltrán O.I.,
Gálvez J.M.,
PalmaMontero A.,
Restrepo C.M.,
Mateus H.E.,
Laissue P.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12634
Subject(s) - sanger sequencing , intellectual disability , exome sequencing , genetics , phenotype , pathogenesis , biology , mutation , exome , gene , disease , genotype , compound heterozygosity , genotype phenotype distinction , bioinformatics , medicine , pathology , immunology
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.