Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

ConclusionOur findings confirm variable expressivity and incomplete penetrance for atypical nested 22q11.2 duplications and identify genes such asPI4KA to be directly relevant to brain development and disorder. We conclude that further work is needed to elucidate the basis of variable neurodevelopmental phenotypes and to exclude the presence of a second disorder. Our findings contribute to the genotype –phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling.

Source: Molecular Genetics & Genomic Medicine - January 4, 2019 Category: Genetics & Stem Cells Authors: Karen J. Woodward, Julie Stampalia, Hannah Vanyai, Hashika Rijhumal, Kim Potts, Fiona Taylor, Joanne Peverall, Tanya Grumball, Soruba Sivamoorthy, Hamid Alinejad ‐Rokny, John Wray, Andrew Whitehouse, Lakshmi Nagarajan, Jacqueline Scurlock, Tags: ORIGINAL ARTICLE Source Type: research