Table 1 (continued) Overview of main phenotypic features with severity score.

From: The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Individual

16

17

18

19

20

21

22

23

24

25

26

27

28

29

30

Severity scorea

4

8

6

9

8

5

7

2

5

7

5

5

7

5

4

Age

9y

6y

4y

3y

2y

20y

2y 4mo

7y

4y

7y

3y

4y

4y

1y 6mo

1y 1mo

Sex

F

F

M

F

M

M

M

M

F

F

M

M

M

M

M

c.

539

T>G

544

C>T

544

C>T

544

C>T

547

C>T

656

C>T

656

C>T

656

C>T

658

G>A

658

G>A

658

G>A

658

G>A

773

G>A

773

G>A

772

C>A

p.

M180R

R182W

R182W

R182W

R183W

S219L

S219L

S219L

V220M

V220M

V220M

V220M

R258H

R258H

R258S

Inheritance

dn

dn

dn

dn

dn

dn

dn

dn

dn

dn

dn

dn

dn

dn

dn

Birth size

SGA

N

N

SGA

N

N

N

N

 

SGA

SGA

N

SGA

N

N

Height

N

N

N

N

-2.5 SD

N

N

N

N

 

N

N

N

N

N

Head circumference

-2.4 SD

N

N

N

N

-2 SD

N

N

 

−2.5 SD

N

N

−3.5 SD

−3 SD

−3.1 SD

DD/ID

ID+

ID+++

ID+++

ID+++

ID+++

ID++

ID++

DD

ID

ID++

ID+

ID++

ID++

DD

DD

Language delay

+

+++

+++

+++

++

+

++

+

 

+++

++

++

+++

+

?

Age of walking

2y 7mo

none

none

none

?

24mo

none

21mo

no data

no data

2y 6mo

23mo

18mo

?

?

Behavior

   

self-injurious

 

ADHD aggressive

stereotypic movements

ADHD

 

self-injurious

 

ASD

ADHD

  

Hypotonia

yes

yes

+++

+++

yes

yes

yes

yes

yes

 

yes

yes

no

yes

no

Feeding problems

mild

  

PEG

PEG

no

initial

no

 

no

no

yes

no

no

no

Epilepsy

no

+

no

+++

+++

++

++

no

+++

+++

no

no

+

no

no

Corpus callosum

N

agenesis

hypoplastic

agenesis

 

hypoplastic

hypoplastic

 

agenesis

agenesis

hypoplastic

hypoplastic

hypoplastic

hypoplastic

hypoplastic

Other brain findings

 

ventricular megaly

ventricular megaly, hydrocephalus

ventricular megaly, delayed myelination

ventricular megaly, hydrocephalus

 

ventricular megaly

 

ventricular megaly

ventricular megaly

PVLM, delayed myelination

PVLM

ventricular megaly

  

Head/cranium

long face

plagio-cephaly

long face

coarse features

 

N

schapho cephaly

long face

frontal bossing

 

coarse face

long face

 

plagio-cephaly

N

Ears/hearing

N

N

 

N

 

N

N

N

N

N

N

N

 

N

N

Extremities/ spine

hyperm.

scoliosis

  

scoliosis

 

N

   

hyperm.

hyperm.

   

Heart

N

PDA, PFO

 

N

  

N

  

N

   

N

 
  1. athe severity score was calculated based on crude judgement of clinical severity: DD = 1 + 1-3 for ID (i.e. max=4), malformations = 1, corpus callosum hypoplasia/agenesis = 1, epilepsy = 1, short stature/SGA = 1, macro- or microcephaly = 1, other major findings (unspecified, based on overall impression of clinical severity) = 1. Language delay was scored from + to +++ when possible: + = mild, ++ = moderate, +++ = severe, based on the age of the individual and the clinical information provided. The scoring is crude but indicative. A “?” indicates “too early to know”. Similar scoring (+ mild, ++ moderate, +++ severe) was done of ID and hypotonia, when possible, otherwise “yes/no” or “ID” was noted.
  2. Abbreviations: ADHD attention deficit-hyperactivity disorder, ASD autism spectrum disorder, DD developmental delay, dn de novo, hyperm. hypermobility, ID intellectual disability, macroC macrocephaly, microC microcephaly, mo months, N normal, OCD obsessive compulsive disorder, PDA persistent ductus arteriosus, PEG percutaneous endoscopic gastrotomy, PFO persistent foramen ovale, PVLM periventricular leukomalacia, SGA small for gestational age, TPN total parenteral nutrition, y years.
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