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Abstract #124914 Published in IGR 25-2
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Contrò G; Baroni MC; Caraffi SG; Napoli M; Artuso R; Giliberti A; Bargiacchi S; Mancano G; Traficante G; Mucciolo M; Radio FC; Cordeddu V; Mancini C; Bottillo I; Pirro FA; Bonati MT; Becker CC; Carli D; Mussa A; Gonzalez MIA; Ruiz-Arana IL; Kumps C; Maystadt I; Moortgat S; Peker A; Piccione M; Grammatico P; Rostomashvili N; Lévy J; Scala M; Capra V; Torella A; van Eyk C; Isidor B; Cogne B; Srivastava S; Quinlan A; Vaisfeld A; Licchetta L; Frattini D; Graziano C; Severi G; Bacchi I; Soliani L; Sherr EH; Argilli E; Goel H; De Luca C; Leonardi S; Brancati F; Faletra F; Mio C; Braibanti S; Gargano G; Fusco C; Novelli A; Tartaglia M; Garavelli LClinical Genetics 2025; 0:
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability and peculiar facial features (Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder; CHDFIDD, OMIM # 617360). This condition is generally referred to as CDK13-related disorder, and since then other reports have provided further clinical and molecular information. Here we describe a group of 27 previously unreported patients to more accurately profile the clinical spectrum associated with CDK13 variants, disclosing novel associated findings, such as complex craniosynostosis and variable skeletal features (e.g., cranio-cervical anomalies). We also focused on the ocular phenotype that appears to include bilateral congenital glaucoma, posterior embriotoxon, buphthalmos and Duane anomaly. Finally, we observed two cases of mother-to-daughter transmission. Our work clarifies some novel features of CHDFIDD, defines the differential diagnosis of this disorder, and provides recommendations for its clinical management.
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
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