The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.

Background: Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome.

Aim: The aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719* mutation toward improvements in (1) diagnostic procedures, (2) phenotypic scope, and (3) interventions.