Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42 , a Member of the Rho Family of Small GTPases
Diana S. Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu et autres
We present a 2-year-old male with bilateral iris and chorioretinal colobomas, speech delays, and facial and digital anomalies. Trio exome sequencing demonstrated a de novo, novel heterozygous variant, c.379G>A p.Glu127Lys in CDC42, conferring a diagnosis of Takenouchi-Kosaki syndrome. The p.Glu127Lys variant was …
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Clinical Genetics