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ajmga36049-sm-0001-SupMath-S1.docx20KSupplementary Methods.
ajmga36049-sm-0001-SupMat-S2.doc34KSupplementary Material 2: A table detailing the clinical features of individuals with SRS-HIL
ajmga36049-sm-0001-SupMat-S3.doc38KSupplementary Material 3: A table detailing the clinical features of individuals with BWS-HIL
ajmga36049-sm-0001-SupFig-S1.tif1521KFigure S1. Molecular analysis of ICR2 in patients with clinical features of SRS Panel A: schematic representation of KCNQ1 and the imprinting control region ICR2 in the KCNQ1OT1 promoter. Top panel: Location of KCNQ1OT1 (blue line) and maternally-methylated ICR2 (red lollipops) within KCNQ1 (red dashed line with exons indicated as vertical bars). Scale (in Mb) is according to HG18. Second panel: ICR 2 region showing location of amplicons for molecular analysis. The transcription origin of KCNQ1OT1 is represented by a blue arrow, ICR2 by a red bar. Locations of amplicons for genomic sequencing, MS-PCR, bisulphite sequencing and pyrosequencing are indicated by black bars. Panel B: Pyrograms of ICR2 amplicon 4 in patients and control. Each panel represents a representative pyrogram of the first bisulphite-induced C/T polymorphism in pyrosequencing reaction D. The percentage cytosine (i.e., percentage methylation) is marked over each pyrogram. Panel C: Pyrosequencing analysis of ICR2 in the three patients and a normal control. For each patient the methylation index is represented as the percentage cytosine at the first bisulphite-induced polymorphism in the pyrosequence, as an average of duplicate tests. The control value is the mean and standard deviation of duplicate determinations of four normal controls at the same position. Panel D: Summary of methylation index as determined by methylation-specific MLPA. For each patient the methylation index is stated for each of the four probes within ICR2, and the mean and standard deviation of the five probes within ICR1. In a normal individual the methylation indices at both ICR2 and ICR1 would be expected to approximate to 1.0, with abnormal calls being made outside the range 0.75-1.3. Panel E: Bisulphite sequence analysis of ICR2 in the three patients, a normal control, and a control with BWS caused by ICR2 hypomethylation. Filled and empty circles represent methylated and unmethylated cytosines, respectively, within CG dinucleotides in the amplicon. Numbers to the right of each sequence represent the number of clones, out of a total of 20, in which that sequence was present.
ajmga36049-sm-0001-SupMat-S5.doc56KSupplementary Material 5: Clinical features of individuals referred for SRS diagnostic testing, with an unsuspected anomaly of imprinting.
ajmga36049-sm-0001-SupMat-S6.docx121KSupplementary Material.

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