Single Suture Craniosynostosis: Identification of Rare Variants in Genes Associated with Syndromic Forms

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2017 Nov 24

PMID 29168297

Citations 15

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

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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