Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms

We report RNA‐Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis‐related genes. Genetic burden analysis identified a significant increase in damaging variants in ATR, EFNA4, ERF, MEGF8, SCARF2, and TGFBR2. Of 391 participants, 15% were found to have damaging and potentially causal variants in 29 genes. We observed transmission in 96% of the affected individuals, and thus penetrance, epigenetics, and oligogenic factors need to be considered when recommending genetic testing in patients with nonsyndromic craniosynostosis.

Source: American Journal of Medical Genetics Part A - November 23, 2017 Category: Genetics & Stem Cells Authors: Christine M. Clarke, Vincent T. Fok, Jennifer A. Gustafson, Matthew D. Smyth, Andrew E. Timms, Chris D. Frazar, Joshua D. Smith, Craig B. Birgfeld, Amy Lee, Richard G. Ellenbogen, Joseph S. Gruss, Richard A. Hopper, Michael L. Cunningham Tags: ORIGINAL ARTICLE Source Type: research