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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)