A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl

Lassana Cisse,Abdoulaye Yalcouye, Kadidia Oumar Toure, Youlouza Coulibaly,Alassane Baneye Maiga,Salia Bamba,Dramane Diallo,Salimata Diarra,Abdoulaye Tamega,Oumou Traore, Mahamadou Kotioumbe, Moussa Aly Sangare,Hamidou Oumar Ba,Assiatou Simaga, Fatogoma Issa Kone,Oumar Samassekou,Amadou Kone,Cheick Oumar Guinto,Guida Landoure

CLINICAL CASE REPORTS（2024）

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摘要

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes. We report a novel de novo variant in the RUNX2 gene causing a severe phenotype of CCD in a Malian girl.

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关键词

cleidocranial dysplasia,de novo genetic variant,Mali,RUNX2,West Africa

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