Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons

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