A de novo nonsense variant in the DNAH17 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014; this variant was later determined to be a postzygotic mosaic mutation (PZM) in Lim et al., 2017. A second non-synonymous PZM in this gene was identified in an ASD proband in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 40/84,448 expected; hypergeometric P-value of 0.030). Additional missense variants in DNAH17 that are predicted to be damaging have been identifed in ASD probands from the Simons Simplex Collection (O'Roak et al., 2012; Iossifov et al., 2014), although these variants are also present in external databases such as dbSNP.
Molecular Function
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
