A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.
Rentao YuYanzhi GuoYunjie DanWenting TanQing MaoGuohong DengPublished in: BMC medical genetics (2018)
Double heterozygous recessive mutations are the cause of BChE deficiency of this boy in this study, including a novel mutation c.73A > T. Intellectual disability is a new phenotype that is probably associated with this mutation.