Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants

ConclusionWe concluded that 9p24.3 is a likely cause of ASD and ID/DD, especially in cases ofDOCK8 intragenic duplication.DOCK8 is a likely causative gene, and KANK1 aberrations a modulator, of the clinical phenotype observed. Other modulators were not excluded.

Source: Molecular Genetics & Genomic Medicine - January 17, 2021 Category: Genetics & Stem Cells Authors: Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Adamova, Martin Prochazka, Marian Hajduch Tags: CLINICAL REPORT Source Type: research