A novel de novo variant in the <scp><i>RUNX2</i></scp> gene causes cleidocranial dysplasia in a Malian girl-Reference-Cited by-同舟云学术

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

Published:2024-02 Issue:2 Volume:12 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Cissé Lassana¹^ORCID,Yalcouyé Abdoulaye²,Touré Kadidia Oumar²³,Coulibaly Youlouza⁴,Maiga Alassane Baneye²^ORCID,Bamba Salia²^ORCID,Diallo Dramane⁵,Diarra Salimata²⁶,Taméga Abdoulaye²,Traoré Oumou²,Kotioumbé Mahamadou²,Sangaré Moussa Aly²,Ba Hamidou Oumar²⁷,Simaga Assiatou²⁸,Koné Fatogoma Issa²⁹,Samassekou Oumar²,Koné Amadou²⁵,Guinto Cheick Oumar¹²,Landouré Guida¹²,

Affiliation:

1. Service de Neurologie, Centre Hospitalier Universitaire du Point G Bamako Mali

2. Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali

3. Service d'Orthopédie Dento‐faciale, Centre Hospitalier Universitaire‐Centre National d'Odonto‐Stomatologie Professeur Hamady TRAORE (CHU‐CNOS Pr HT) Bamako Mali

4. Service d'Imagerie Médicale, Centre Hospitalier Universitaire du Point G Bamako Mali

5. University Clinical Research Center (UCRC), University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali

6. Neurogenetics Branch, NINDS, NIH Bethesda Maryland USA

7. Service de Cardiologie, Centre Hospitalier Universitaire Gabriel Touré Bamako Mali

8. Institut d'Ophtalmologie Tropicale de l'Afrique Bamako Mali

9. Service d'ORL, Centre Hospitalier Universitaire Gabriel Touré Bamako Mali

Abstract

Key Clinical MessageCleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene.AbstractCleidocranial 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.

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.8551

Reference13 articles.

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4. Cleidocranial dysplasia—A case report of incidentally found and lately diagnosed disorder

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