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Table 1 Clinical information, deletion range, and methylation status at SNRPN-DMR in cases enrolled in this study

From: Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions

Cases Phenotype Sex Agea Breakpoint (approximate size) Methylation status at SNRPN-DMRd
Case 1 PWS Male 2 mo Chr15:25,150,978-25,225,535 (75 kb)b Hypermethylated
Case 2 Healthy carrier (father of case 1) Male 36 yr Hypomethylated
Case 3 PWS Female 3 yr Chr15:25,216,569-25,415,670 (200 kb)b Normal
Case 4 AS Female 3 yr Chr15:25,126,774-25,168,037 (41 kb)b Hypomethylated
Case 5 AS Male 4 yr Chr15:25,164,853-25,168,575 (3.7 kb)b Hypomethylated
Case 6 Healthy carrier (mother of case 5) Female 36 yr Normal
PWSLD PWSLD-1 PWS Male 0 mo BP2–3 (5.5 Mb)c Hypermethylated
PWSLD-2 PWS Male 2 mo BP1–3 (6 Mb)c Hypermethylated
PWSLD-3 PWS Male 3 yr BP1–3 (6 Mb)c Hypermethylated
PWSLD-4 PWS Male 8 yr BP1–3 (6 Mb)c Hypermethylated
ASLD ASLD-1 AS Female 9 yr BP2–3 (5.5 Mb)c Hypomethylated
ASLD-2 AS Female 9 yr BP2–3 (5.5 Mb)c Hypomethylated
ASLD-3 AS Male 2 yr BP1–3 (6 Mb)c Hypomethylated
ASLD-4 AS Female 1 yr BP1–3 (6 Mb)c Hypomethylated
  1. PWS Prader-Willi syndrome, AS Angelman syndrome, DMR differentially methylated region, LD large deletion, BP breakpoint
  2. aAge at sample collection (mo months, yr years)
  3. bThe breakpoints were estimated according to the results of aCGH
  4. cThe breakpoints were estimated according to the results of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The locations of BPs are shown in Additional file 2: Figure S1
  5. dMethylation status were examined by MS-MLPA