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Table 1 Summary of the phenotypic features of ASD patients and relevant findings of the study

From: Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

Patient

Birth year

Intellectual disability

ADIR classification

Seizure episode

Dysmorphic features

Functional language

Other medically relevant conditions

Molecular diagnosis

Specific ASD overrepresented pathways

ASD_1

1992

Severe

AUT

No

No

No

Obesity

CDKL5 (p. P647L)

 

ASD_2

1995

Severe

PDD-NOS

No

No

No

Hypermetropia

 

Agrin in postsynaptic differentiation

Elastic fiber formation

         

Erk and pi-3 kinase for collagen binding in corneal epithelia

         

Integrin cell surface interactions

         

Molecules associated with elastic fibers

         

Ucalpain and friends in cell spread

ASD_3

1993

Mild

AUT

Yes

No

No

   

ASD_4

1995

Mild

AUT

Yes

No

No

   

ASD_5

1997

Moderate

AUT

No

No

Yes

ADHD

SCN2A (p.R583X)

 

ASD_6

1998

Mild

AUT

No

No

Yes

   

ASD_7

1999

Mild

BS

No

Yes

Yes

Sleep disturbance, ADHD

CUL3 (p.H719R)

 

ASD_8

1991

None

AUT

No

No

Yes

  

Integrin cell surface interactions

ASD_9

2000

Moderate

AUT

No

No

No

   

ASD_10

2000

Severe

AUT

No

No

No

   

ASD_11

1999

Severe

AUT

No

Yes

No

Sleep disturbance, hypotonia, umbilical hernia

MED13L (c.1708_1709delAG)

 

ASD_12

2002

Moderate

AUT

No

Yes

No

ADHD

  

ASD_13

2001

None

AUT

No

No

Yes

  

Elastic fiber formation

Signaling events mediated by HDAC class II

         

Sumoylation by RanBP2 in transcriptional repression

ASD_14

2000

Severe

AUT

No

No

No

ADHD

KCNV1 (c.1391_1392delAT)

 

ASD_15

2001

Mild

AUT

Yes

Yes

Yes

   

ASD_16

2001

Moderate

AUT/PDD-NOS

Yes

No

Yes

Mild psychosis, aggressive behavior

MAOA (c.1438-2A > G)

 

ASD_17

2000

 

AUT

No

 

Yes

  

Beta1 integrin cell surface interactions

         

Beta3 integrin cell surface interactions

         

Integrin cell surface interactions

         

Integrins in angiogenesis

         

Signaling by PDGF

ASD_18

2003

 

BS

No

 

No

  

Axon guidance

         

NCAM signaling for neurite out-growth

         

Ucalpain and friends in cell spread

ASD_19

2001

 

AUT

No

 

No

  

Beta3 integrin cell surface interactions

         

Integrin cell surface interactions

         

Signaling by PDGF

ASD_20

1998

 

AUT

No

 

No

  

Elastic fiber formation

         

Huntington’s disease

         

Molecules associated with elastic fibers

ASD_21

1997

Severe

AUT

No

Yes

No

Sleep disturbance

  

ASD_22

2000

Moderate

AUT

No

No

No

   

ASD_23

2005

None

AUT

No

No

NO

   

ASD_24

2000

Severe

AUT

Yes

No

No

ADHD

  

ASD_25

2002

Mild

AUT

No

Yes

Yes

   

ASD_26

2000

Mild

AUT

Yes

No

No

  

PI3K-Akt signaling pathway

ASD_27

2005

 

AUT

No

 

No

Trimethylaminuria

 

Beta1 integrin cell surface interactions

         

Erk and pi-3 kinase for collagen binding in corneal epithelia Integrins in angiogenesis

         

PI3K-Akt signaling pathway

         

Scavenging by class A receptors

         

Striated muscle contraction

ASD_28

1995

 

AUT

Yes

 

No

Moderate obesity, myopia

 

Scavenging by class A receptors

         

Signaling events mediated by HDAC Class II

         

Sumoylation by RanBP2 in transcriptional repression Superpathway of cholesterol biosynthesis

ASD_29

1999

Severe

AUT

No

No

No

  

Huntington’s disease

ASD_30

1997

Severe

AUT

Yes

No

No

  

Termination of O-glycan biosynthesis

ASD_31

2008

None

AUT

No

No

Yes

  

Striated muscle contraction

ASD_32

2004

Mild

AUT

No

No

Yes

   

ASD_33

1990

 

AUT

No

 

No

  

Agrin in postsynaptic differentiation

         

L1CAM interactions

         

Ucalpain and friends in cell spread

ASD_34

2001

 

AUT

No

 

Yes

  

Superpathway of cholesterol biosynthesis

         

Termination of O-glycan biosynthesis

ASD_35

2003

 

PDD-NOS

No

 

Yes

  

Axon guidance

         

Integrin cell surface interactions

         

L1CAM interactions

         

NCAM signaling for neurite out-growth

ASD_36

1999

Severe

AUT

No

No

No

Macrocephaly

PTEN (c.239-21G > C)

Â