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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 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

  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