Table 1 Selected clinical characteristics and mutational status of several individuals in the multiplex ASD pedigree
Clinical characteristic | AP | IS | UM |
|---|---|---|---|
Age of ASD diagnostic confirmation | 3.5 years | 18 years | N/A |
Social responsiveness scale-2 | 83 T | 72 T | 56 T (spouse-report) |
Depression and anxiety | Yes | Yes | No |
Seizure history | No | No | No |
Developmental delay | Yes | No | No |
Eye contact | Poor | Fair | Good |
Repetitive behavior | Yes | No | No |
Abnormal sensory sensitivities | Yes | No | No |
IQ | 65 | 102 (Raven) | 108 (Raven) |
Speech delay | Yes | No | No |
ASD | Severe | Moderate | No |
Intellectual disability | Yes | No | No |
Mutation location | GPD2 | GPD2 | GPD2 |
chr2:157352686 (hg19) G>A | chr2:157352686 (hg19) G>A | chr2:157352686 (hg19) G>A | |
p.G78E, c.233G>A | p.G78E, c.233G > A | p.G78E, c.233G>A |