PMC3890613_01
Molecular characterization of the patient. Left panel: Sequence chromatogram showing the position of the heterozygous c.646G>A transition (NM_020041.2, GLUT9L, exon 7) corresponding to c.559G>A (NM_00100290.1, GLUT9S, exon 7), leading to the p.Gly216Arg missense mutation (NP_064425.2, GLUT9L) corresponding to p.Gly187Arg (NP_001001290.1, GLUT9S). Right panel: Sequence chromatogram with the position of the heterozygous c.1138C>T transition (NM_020041.2, GLUT9L, exon 11) corresponding to c.1051C>T (NM_00100290.1, GLUT9S, exon 11), leading to the p.Arg380Trp missense mutation (NP_064425.2, GLUT9L, corresponding to p.Arg351Trp (NP_001001290.1, GLUT9S). Mutations are annotated according to HGVS nomenclature (http://www.hgvs.org/mutnomen). Nucleotide numbering is based on cDNA sequence numbering, with +1 corresponding to the A of the ATG translation initiation codon 1 in the reference sequence. For protein numbering, +1 corresponds to the first translated amino acid.
1471-2350-15-3-1.jpg
PMC3890613_01_1471-2350-15-3-1.jpg
F1
Sequencing analysis of SLC22A12 did not identify casual mutations; however, in SLC2A9, two distinct missense mutations were identified (Figure 1).