A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.

ABSTRACT: CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromos

SUBMITTER: Ceroni F 

PROVIDER: S-EPMC4309371 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature