In Reply We are grateful to Vann Jones for his interest and most relevant commentary to our populationwide study on the risk of psychiatric disorders among individuals with the 22q11.2 deletion and duplication.1
We agree with Vann Jones that the neuropsychiatric symptoms and the pleiotropic nature of the 22q11.2 deletion and of other large recurrent copy number variations seem to challenge the diagnostic classification systems that may poorly capture the clinical manifestations of these syndromes. However, it can be argued that the same is true for the diverse clinical presentations in idiopathic cases of schizophrenia, for example. It is also true that highly penetrant disease mutations, such as copy number variations, seem to offer unique possibilities to study biomarkers and pathological mechanisms, and numerous laboratories, including our own, are pursuing this hypothesis.
Louise K. Hoeffding, Carsten B. Pedersen, Thomas Werge. Lessons to be Learned From 22q2.11 Syndromes—Reply. JAMA Psychiatry. 2017;74(7):757–758. doi:10.1001/jamapsychiatry.2017.0837