De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review

摘要

Array comparative genome hybridization (Array CGH) identified a de novo intragenic deletion of 683-806 kb at chromosome 7qll.2 involving multiple exons of the autism susceptibility candidate 2 (AUTS2) gene in a 13-year-old male with developmental delay (DD), intellectual disability (ID), short stature, ptosis, and mild dysmorphism (Fig. 1). This is the second report of an isolated de novo intragenic deletion of AUTS2 in a patient with full clinical description.