The gene is estimated to be mutated in at least 0.17% of autism/ID cases (1-2/1000), making it one of the most frequent autism-associated genes known to date. Currently, 80 patients are known to us of which only a minority has been reported.
Main clinical features
Common comorbidities include congenital heart disease, brain abnormalities, seizures, visual impairment, short stature, hormonal deficiencies, gastrointestinal problems, feeding difficulties, sleep disorder and behavioral problems. Typical facial features are a high anterior hairline, prominent forehead, low nasal bridge, short nose, thin upper lip, pointed chin and small, malformed ears.
The inheritance pattern is autosomal dominant. Most mutations arose de novo.