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Schematic representation of the location of HK1 variants identified in probands with congenital hyperinsulinism. The ubiquitously expressed isoform (ENST00000359426) is depicted. The position of copy number variants (CNVs) within intron 2 is shown below the HK1 gene. The breakpoints of the large deletions have been defined in two cases, the remaining 15 are known to extend beyond the sequenced region but not into the coding sequence as depicted by the dashed line. The horizontal bars depict indels. Only bases within the indel that are affecting the minimal regulatory region are shown (Chr10:71,108,642-71108687). The g.71,108,688-71,108,691del has been named according to HGVS nomenclature, this variant deletes a TGTT repeated sequence that starts at g.71,108,683. Directly below the indels is the reference sequence. The greyed boxes around the nucleotide bases of the genomic sequence indicate the previously defined predicted transcription factor binding sites [ 3 ]. Single nucleotide variants (SNVs) are listed, according to position, below the genomic sequence. Black lines/text indicate variants classified as pathogenic or likely pathogenic and grey lines/text indicate those classified as variants of uncertain significance according to the current classification guidelines [ 22 , 23 , 24 ]

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