Table 2. Phenotype of patients with single-locus methylation defect among the SGA cohort.
| Affected locus | Methylation detaila | Age (gender) | Clinical details |
|---|---|---|---|
| MEG3 | LoM (12%), 8/9 | 5 years (F) | Short stature, precocious puberty, developmental delay, small hands and feet, prominent forehead |
| GRB10 | LoM (20%), 10/14 | 17 years (M) | Short stature, learning difficulties, overfolded ear helices, hexadactyly left hand |
| GRB10 | LoM (20%), 9/14 | 13 years (M) | Short stature, no dysmorphic features |
| H19_3CTCF | LoM (4%), 3/3 | 12 years (F) | Clinodactyly, mother with diabetes mellitus type I |
| NDN | GoM (63%), 2/8 | 7 years (M) | DZ twin pregnancy, umbilical hernia, ichthyosis, flat philtrum, epicanthus, hypertelorism, thin lip, camptodactyly |
| IGF2 | GoM (62%), 0/3 | 3 days (F) | Mother with two early miscarriages, one healthy sibling |
Abbreviations: F, female; M, male; LoM, loss of methylation/hypomethylation; GoM, gain of methylation/hypermethylation.
a
Methylation status (mean sample DNA methylation in %) and number of affected CpG positions (n(affected)/n(analyzed)).