From: Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
 | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 |
---|---|---|---|---|---|---|
Sex | F | M | M | M | M | M |
Variant | c.1912C > T | c.1761G > A | c.1912C > T | c.1996dupC | c.1762C > T | c.1762C > T |
p.(Q638*) | p.(W587*) | p.(Q638*) | p.(Q666fs) | p.(Q588*) | p.(Q588*) | |
Inheritance | not maternal | de novo | de novo | de novo | paternal | paternal |
Affected allele | paternal | paternal | paternal | paternal | paternal | paternal |
Gestational age | 39w3d | 42w0d | 37w4d | 38w2d | 38w3d | 39w0d |
Birth weight, g (SD) | 2400 (−1.6) | 3265 (0.7) | 2315 (−1.3) | 2925 (0.2) | 2980 (0.3) | 2906 (−0.5) |
Birth length, cm (SD) | 46 (−1.6) | 48 (−0.6) | NA | 47.5 (−0.4) | 48 (−0.2) | 48 (−0.4) |
Birth OFC, cm (SD) | 34 (0.6) | 32 (−1.0) | NA | 34.5 (1.1) | 33.8 (0.5) | 35.2 (1.5) |
Last follow up age | 5y0m | 3y6m | 1y0 m | 6y3m | 23y5m | 12y0m |
Last weight, kg (SD) | 20 (1.1) | 18 (1.8) | 4.2 (−5.7) | 14 (−2.0) | 72 (0.9) | 24 (−1.9) |
Last length, cm (SD) | 90 (−3.9) | NA | NA | 98 (−3.5) | 162 (−1.5) | 120 (−3.8) |
BMI (Z-Score) | 24.7 (2.85) | NA | NA | 14.6 (−0.71) | 27.4 (1.11) | 16.7 (− 0.55) |
PWS major criteria | ||||||
 Neonatal hypotonia, poor suck | + | + | + | + | + | + |
 Feeding problems in infancy, with need for special feeding technique | + | – | + | + | + | – |
 Excessive weight gain before age 6 years | + | + | NA | – | + | – |
 Characteristic facial features | + | + | – | + | + | – |
 Hypogonadism | – | + | + | – | + | + |
 Developmental delay | + | + | + | + | + | + |
PWS minor criteria | ||||||
 Infantile lethargy, weak cry | + | – | + | + | + | + |
 Short stature | + | + | NA | + | + | + |
 Characteristic behavior (temper tantrums, violet outbursts, oppositional behavior, etc.) | – | – | NA | – | + | – |
 Hypopigmentation | – | + | + | – | + | + |
 Small hands | + | + | + | + | + | + |
 Eye abnormalities | + | – | + | + | + | + |
 Skin picking | – | + | – | + | + | + |
 Sleep apnea | – | – | NA | – | + | – |
Other | ||||||
 DQ (assessed method) age | 13 (Enjoji) 5y | DD | NA | 21 (K-test) 6y | 21 (Enjoji) 12y | DD |
 Autism spectrum disorder | NA | NA | NA | NA | + | NA |
 Neurological deterioration | + | + | + | – | – | + |
 Arthrogryposis | + | + | + | + | + | + |
 GH deficiency | + | NA | NA | + | + | NA |