Table 3. Phenotype of patients with IGF2R DMR2 hypermethylation among the SGA cohort.
| Affected locus | Methylation detaila | Age (gender) | Clinical details |
|---|---|---|---|
| IGF2R | GoM (82%), 3/3 | 14 years (M) | Short stature, large ears, mild clinodactyly |
| IGF2R | GoM (82%), 3/3 | 9 years (M) | Flat midface, protruding ears, clinodactyly, inguinal hernia |
| IGF2R | GoM (92%), 2/3 | 4 days (F) | Short stature, thin lips, anteverted nares |
| IGF2R | GoM (84%), 3/3 | 9 years (M) | Adipositas, disproportionate short stature, round face, prominent ear lobes, anteverted nares, prominent foreheadb |
| IGF2R | GoM (85%), 2/3 | 4.5 years (F) | Bladder exstrophy, inguinal hernia |
Abbreviations: F, female, GoM, gain of methylation/hypermethylation; M, male.
a
Methylation status (mean sample DNA methylation in %) and number of affected CpG positions (n(affected)/n(analyzed)).
b
A maternally transmitted IGF1 missense mutation of unknown significance was reported.