Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

doi:10.3390/genes14040810

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Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Genes - 28 Mar 2023

Cabrita Pinto Rute Luísa, Viaggi Silvia, Canale Edoardo, Martinez Popple Marina, Capra Valeria, Conteduca Giuseppina, Testa Barbara, Coviello Domenico, Covone Angela Elvira

Abstract excerpt

The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features. Here, we describe an Italian pediatric patient with typical features of Joubert Syndrome (JBTS): "Molar Tooth Sign", global developmental delay, nystagmus, mild hypotonia, and oculomotor apraxia. Whole exome sequencing and...

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PMID: 37107568
DOI: 10.3390/genes14040810
PMCID: PMC10137517

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