Case Report: Association of Ocular Colobomas With a Novel Missense Variant in <i>CDC42</i>, a Member of the Rho Family of Small <scp>GTPases</scp>

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 not located in the same region as previously designated mutation classes for CDC42, and the patient's missense substitution was predicted to disrupt CDC42 interactions with Collybistin II and IQGAP1. As conditional knock-out mouse models have demonstrated coloboma in association with loss of Cdc42 expression, we conclude that the colobomas can be attributed to the CDC42 variant and that similar ocular anomalies are likely to be described with other Rho GTPases in the future.

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Publication Details

Journal
Clinical Genetics
Published
2025-05-15
DOI
https://doi.org/10.1111/cge.14768
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Ehsan Ullah, Anne Slavotinek, Sabine Fuhrmann, Eniolami O. Dosunmu et al.
Clinical Genetics
Genomics and Rare Diseases
article

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Ehsan Ullah, Anne Slavotinek, Sabine Fuhrmann, Eniolami O. Dosunmu, Brittany Simpson, Diana S. Brightman, Delphine Blain, Bin Guan, Robert B. Hufnagel, Aleksey Porollo, Brian P. Brooks, Nawaal Shinwari
article en

Abstract

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 not located in the same region as previously designated mutation classes for CDC42, and the patient's missense substitution was predicted to disrupt CDC42 interactions with Collybistin II and IQGAP1. As conditional knock-out mouse models have demonstrated coloboma in association with loss of Cdc42 expression, we conclude that the colobomas can be attributed to the CDC42 variant and that similar ocular anomalies are likely to be described with other Rho GTPases in the future.

Clinical GeneticsVol. 108(5)
Cincinnati Children's Hospital Medical Center (US), National Institutes of Health (US), Kaiser Permanente (US), University of Tennessee Health Science Center (US), National Eye Institute (US), Le Bonheur Children's Hospital (US), Vanderbilt University Medical Center (US), University of Cincinnati Medical Center (US)
National Institutes of Health, National Eye Institute
Openalex Percentile: Top 88%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
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