Table 1 Clinical traits present in patients with Temple syndrome and in patients with small deletions reported
From: Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome
TS14 features | Present case | Dauber A [23] n = 4 (family) | Kagami M [2] n = 2 (family) n = 1 | Sabria-Back [24] n = 1 | TS14 features revised in Ioannides [3] and Kagami [18] series n = 83 patients | ||
|---|---|---|---|---|---|---|---|
Size of deletion | 69Â kb | 14Â kb | 108Â kb | 411Â kb | 108Â KB | 1Â Mb to 6Â Mb | |
Genetic etiology | DLK1 whole-gene deletion | exon 1 DLK1 deletion | DLK1, MEG3/DLK1:IG-DMR and MEG3:TSS-DMR deletion | DLK1, RTL1, MEG3/DLK1: IG-DMR and MEG3:TSS-DMR deletion | DLK1, MEG3/DLK1:IG-DMR and MEG3:TSS-DMR deletion | Deletion = 8 | UPD = 63 Epimutation = 12 |
Sex Age | Female 4Â years old | Females 6/8/6/7Â years old | Female/Male 36/62Â years old | Female 28Â years old | Female NR (adulthood) | 2 males:6 females | 39 males:36 females |
Pregnancy and delivery | Â | Â | Â | Â | Â | Â | Â |
Premature birth | 42 w | 39–40 w | 39w/NP | 40w | NR | 0% (0/6) | 28% (18/65) |
Growth | Â | Â | Â | Â | Â | Â | Â |
Intrauterine growth retardation | - | NR |  +/NR |  +  | NR | 80% (4/5) | 79% (49/62) |
Low birth weight SDS ≤ -2.0 | -1.6 | -0.52/1.37/-0.07/0.98 | -2.5/NR | − 2.2 | NR | 100% (4/4) | 92% (58/63) |
Short stature SD ≤ -2.0 | -2.0* | 0.6/-0.6/-0.6/0.7** | -2.2/-2.9 | − 4.4 |  +  | 100% (8/8) | 86% (62/72) |
Obesity (BMI SDS) | Too Young (-0.8–0.6) | 2/4 (2, > 2)** | -/ +  | − | NR | 20% (1/5) | 41% (21/51) |
Head and neck | Â | Â | Â | Â | Â | Â | Â |
Relative macrocephaly at birth |  +  | - | NR/NR |  +  | NR | NR | 52% (14/27) |
Frontal bossing/Prominent forehead |  +  | - |  + / +  |  +  | NR | 50% (1/2) | 64% (18/28) |
High palate | − | - | NR/NR | − | NR | 0% (0/1) | 54% (14/26) |
Skeletal | Â | Â | Â | Â | Â | Â | Â |
Hyperextensible joints |  +  | NR | -/NR | − | NR | 0% (0/3) | 48% (22/46) |
Small hands (percentile) |  + (p < 3) | − |  + / +  |  +  | NR | 100% (3/3) | 86% (31/36) |
Small feet |  +  | − |  + / +  |  +  | NR | 100% (1/1) | 96% (25/26) |
Clinodactyly | − | NR | -/NR | − | NR | 0% (0/2) | 42% (11/26) |
Central Nervous System | Â | Â | Â | Â | Â | Â | Â |
Hypotonia |  +  | - | -/NR |  +  | NR | 80% (4/5) | 82% (55/67) |
Motor development delay |  +  | - | NR/NR | NR | NR | 100% (3/3) | 82% (31/38) |
Speech delay |  +  | - | -/- | − | NR | 100% (2/2) | 56% (14/25) |
Feeding problems | − | - | -/NR | − | NR | 50% (1/2) | 64% (18/28) |
Mild Intellectual disability |  +  | - | -/- | − | NR | 25% (1/4) | 34% (14/41) |
Endocrine features | Â | Â | Â | Â | Â | Â | Â |
Early onset puberty | Precocious thelarche (7 years old) | 4/4 |  + /NR | - |  +  | 60% (3/5) | 70,6% (29/34) |