Skip to main content

Table 1 Selected clinical characteristics and mutational status of several individuals in the multiplex ASD pedigree

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

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