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Table 2 Clinical features of patients with a MAGEL2 variant

From: Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

 Patient 1Patient 2Patient 3Patient 4Patient 5Patient 6
SexFMMMMM
Variantc.1912C > Tc.1761G > Ac.1912C > Tc.1996dupCc.1762C > Tc.1762C > T
p.(Q638*)p.(W587*)p.(Q638*)p.(Q666fs)p.(Q588*)p.(Q588*)
Inheritancenot maternalde novode novode novopaternalpaternal
Affected allelepaternalpaternalpaternalpaternalpaternalpaternal
Gestational age39w3d42w0d37w4d38w2d38w3d39w0d
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)NA47.5 (−0.4)48 (−0.2)48 (−0.4)
Birth OFC, cm (SD)34 (0.6)32 (−1.0)NA34.5 (1.1)33.8 (0.5)35.2 (1.5)
Last follow up age5y0m3y6m1y0 m6y3m23y5m12y0m
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)NANA98 (−3.5)162 (−1.5)120 (−3.8)
BMI (Z-Score)24.7 (2.85)NANA14.6 (−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 apneaNA+
Other
 DQ (assessed method) age13 (Enjoji) 5yDDNA21 (K-test) 6y21 (Enjoji) 12yDD
 Autism spectrum disorderNANANANA+NA
 Neurological deterioration++++
 Arthrogryposis++++++
 GH deficiency+NANA++NA
  1. DD apparently developmentally delayed but not scored by a standardized method, DQ developmental quotient, Enjoji Enjoji Scale of Infant Analytical Development, F female, GH growth hormone, K-test the revised version of Kyoto Scale of Psychological Development, M male, NA not available, OFC occipitofrontal circumference, SD standard deviation. Symbols: +, present; −, absent
  2. *nonsense variant